Ann Swillen

Ann Swillen

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Ann Swillen

Ann Swillen

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Atypical language characteristics and trajectories in children with 22q11.2 deletion syndrome.

J Commun Disord 2018 Sep - Oct;75:37-56. Epub 2018 Jun 5.

KU Leuven, Faculty of Medicine, Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology (ExpORL), Herestraat 49 box 721, B-3000 Leuven, Belgium; University Hospitals Leuven, Campus Sint-Rafaël, Department of Oto-Rhino-Laryngology, Head & Neck Surgery, MUCLA, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1016/j.jcomdis.2018.06.001DOI Listing
August 2019

Vestibular dysfunction is a manifestation of 22q11.2 deletion syndrome.

Am J Med Genet A 2019 Mar 11;179(3):448-454. Epub 2019 Jan 11.

Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.7DOI Listing
March 2019

Neurodevelopmental outcome in 22q11.2 deletion syndrome and management.

Am J Med Genet A 2018 10 25;176(10):2160-2166. Epub 2018 Apr 25.

University Medical Centre Utrecht, Utrecht, The Netherlands.

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http://dx.doi.org/10.1002/ajmg.a.38709DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202262PMC
October 2018

Exploratory study on cognitive abilities and social responsiveness in children with 22q11.2 deletion syndrome (22q11DS) and children with idiopathic intellectual disability (IID).

Res Dev Disabil 2018 Oct 21;81:89-102. Epub 2018 Jun 21.

KU Leuven, Faculty of Medicine, Department of Human Genetics, Leuven, Belgium; University Hospitals Leuven, Center for Human Genetics, Leuven, Belgium.

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https://linkinghub.elsevier.com/retrieve/pii/S08914222183010
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http://dx.doi.org/10.1016/j.ridd.2018.04.026DOI Listing
October 2018

Typical features of Parkinson disease and diagnostic challenges with microdeletion 22q11.2.

Neurology 2018 06 11;90(23):e2059-e2067. Epub 2018 May 11.

From The Dalglish Family 22q Clinic for Adults and Department of Psychiatry (E.B., A.M.F., A.S.B.), Toronto General Research Institute (A.S.B.), and Division of Cardiology, Department of Medicine (A.S.B.), University Health Network, Toronto, Canada; De Hartekamp Groep (E.B.), Centre for People with Intellectual Disability, Haarlem; Department of Nuclear Medicine (E.B., J.B.), Academic Medical Center, Amsterdam, the Netherlands; Clinical Genetics Research Program and Campbell Family Mental Health Research Institute (N.J.B., A.M.F., A.S.B.), Centre for Addiction and Mental Health, Toronto; Institute of Medical Science (N.J.B., M.M., A.E.L., A.S.B.), Division of Neurology, Department of Medicine (C.M., M.M., A.E.L.), and Department of Psychiatry (A.S.B.), University of Toronto; Deer Lodge Movement Disorders Centre (S.U.); Section of Neurology (S.U.), Division of Internal Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg; Morton and Gloria Shulman Movement Disorders Centre and the Edmond J. Safra Program in Parkinson's Disease Research (C.M., A.E.L.), Toronto Western Hospital and University of Toronto, Canada; Department of Molecular Neuroscience (K.Y.M., N.W.W.), UCL Institute of Neurology, London, UK; Department of Neurology (S.K.), Kansai Medical University, Osaka, Japan; Department of Neurology (M.J.B.), University of Virginia School of Medicine, Charlottesville; Medical Genetics Unit (P.P.), Perugia University Hospital, Italy; Department of Neurology (B.D.B.), University of Colorado Anschutz Medical Campus, Aurora; Neurology Section (B.D.B.), VA Eastern Colorado Health Care System, Denver; Cognitive & Movement Disorders Clinic and Hurvitz Brain Sciences Research Program (M.M.), Sunnybrook Health Sciences Centre, Toronto, Canada; Departments of Clinical Neurosciences (Movement Disorders) (B.D.) and Genetics (Neurogenetics) (K.N.), Timone University Hospital (AP-HM), Provence-Alpes-Côte d'Azur; Aix-Marseille University (B.D., K.N.), Marseille; Department of Genetics (Neurogenetics) (P.C., A.J.), Pitié-Salpêtrière University Hospital; Sorbonne University (P.C., A.J.), Paris; Department of Neurosciences (Movement Disorders) (E.M.), Lille University Hospital; Lille University (E.M.); Department of Neurology (Movement Disorders) (T.D.), Pierre Wertheimer University Hospital, Lyon; Marc Jeannerod Center for Cognitive Neurosciences (T.D.), Lyon-1 University; Department of Neurology (Movement Disorders) and Clinical Investigation Center (Clinical and Experimental Neurosciences) (O.C.), Poitiers University Hospital; Department of Neurology (Movement Disorders) (S.D.), Rennes University Hospital; Rennes-1 University (S.D.); Department of Clinical Neurosciences (Movement Disorders) (M.B.), Nice University Hospital, France; Department of Psychiatry (A.M.F.), Rudolf Magnus Institute of Neuroscience, University Medical Center Utrecht, the Netherlands; Center for Human Genetics (E.V., A.S., A.V.), University Hospital Leuven; Department of Human Genetics (A.S.), KU Leuven, Belgium; Department of Neurology (A.P.), University of Munich, Germany; Scientific and Technological Coordination Unit of the ANLIS Directorate (C.P.), National Administration of Laboratories and Institutes of Health, Argentina; Department of Neurodegenerative Diseases (T.G.), Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen; German Center for Neurodegenerative Diseases (DZNE) (T.G.); Department of Neurology (K.C.), AZ Turnhout, Antwerp, Belgium; Neurology Unit and Stroke Center (F.B.), Hôpital Foch, Suresnes, France; Movement Disorder Division (K.M.), Johns Hopkins University, Baltimore, MD; and Psychological Medicine and Clinical Neurosciences (N.M.W.), MRC Centre for Neuropsychiatric Genetics and Genomics, Cardiff University School of Medicine, Cardiff University, UK.

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http://dx.doi.org/10.1212/WNL.0000000000005660DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993183PMC
June 2018

Numerical magnitude processing impairments in genetic syndromes: a cross-syndrome comparison of Turner and 22q11.2 deletion syndromes.

Dev Sci 2017 Nov 17;20(6). Epub 2016 Oct 17.

Parenting and Special Education Research Unit, Faculty of Psychology and Educational Sciences, University of Leuven, Belgium.

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http://doi.wiley.com/10.1111/desc.12458
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http://dx.doi.org/10.1111/desc.12458DOI Listing
November 2017

Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome.

Am J Psychiatry 2017 11 28;174(11):1054-1063. Epub 2017 Jul 28.

From the Dalglish Family 22q Clinic, Department of Psychiatry, University Health Network, Toronto; the Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto; the Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto; the Department of Psychiatry, University of Toronto, Toronto; the Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto; the Centre for Applied Genomics and Program in Genetics and Genome Biology, the Hospital for Sick Children, Toronto; the Medical Genetics Residency Training Program, University of Toronto, Toronto; the Department of Psychiatry and Psychology, Maastricht University, Maastricht, the Netherlands; the Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia; the Departments of Pediatrics and of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia; the Centre for Human Genetics, University of Leuven (KU Leuven), Leuven, Belgium; the Division of Psychological Medicine and Clinical Neurosciences, Cardiff University, Cardiff, Wales; the Department of Psychiatry, Royal College of Surgeons in Ireland, Dublin; the Department of Child and Adolescent Psychiatry, King's College London; the Department of Psychiatry, Tel Aviv University, Tel Aviv, Israel; the Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, UCLA, Los Angeles; Office Médico-Pédagogique Research Unit, Department of Psychiatry, University of Geneva School of Medicine, Geneva; the Department of Psychiatry and Behavioral Sciences, Upstate Medical University, State University of New York, Syracuse; Département de Génétique Médicale, Centre Hospitalier Universitaire de Marseille - Hôpital de la Timone, Marseilles, France; the Department of Pediatrics, Duke University, Durham, N.C.; the Department of Psychology, University of Newcastle, Newcastle, Australia; the Department of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, the Netherlands; the Department of Human Genetics, Emory University, Atlanta; Centro de Genética y Genómica, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile; the Department of Psychiatry and Behavioral Sciences, UC Davis, Sacramento, Calif.; Molecular Genetics and McLaughlin Centre, and Laboratory Medicine and Pathobiology, University of Toronto, Toronto; the Department of Genetics, Albert Einstein College of Medicine, Bronx, N.Y.; and Genome Diagnostics, Department of Paediatric Laboratory Medicine, the Hospital for Sick Children, Toronto.

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http://dx.doi.org/10.1176/appi.ajp.2017.16121417DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5665703PMC
November 2017

Referential communication abilities in children with 22q11.2 deletion syndrome.

Int J Speech Lang Pathol 2017 10 3;19(5):490-502. Epub 2016 Oct 3.

a Department of Neurosciences, Research Group Experimental Oto-Rhino-Laryngology (ExpORL) , KU Leuven - University of Leuven , Leuven , Belgium.

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http://dx.doi.org/10.1080/17549507.2016.1221456DOI Listing
October 2017

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the Locus on 5q14.3.

Circ Cardiovasc Genet 2017 Oct;10(5)

From the Department of Genetics (T.G., J.H.C., H.N., C.L.C., T.W., B.E.M.) and Department of Epidemiology and Population Health (T.W.), Albert Einstein College of Medicine, Bronx, NY; Center for Human Genetics, Facultad de Medicina Clinica Alemana Universidad del Desarrollo, Santiago, Chile (G.M.R.); Division of Human Genetics (D.M.M.M., E.E.M., E.Z., B.S.E.), Division of Cardiology (E.G.), and Department of Pediatrics (E.G.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania, Philadelphia; Department of Genetics, Wroclaw Medical University, Poland (A.B.); Clinical Genetics Research Program, Center for Addiction and Mental Health and Department of Psychiatry, University of Toronto (A.S.B., E.W.C.C.); Dalglish Family 22q Clinic, Department of Psychiatry and Toronto General Research Institute, University Health Network, Canada (A.S.B.); Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Canada (A.S.B.); Center for Human Genetics, University of Leuven (KU Leuven), Belgium (A.S., J.V., K.D.); The Child Psychiatry Division, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel (D.G.); Sackler Faculty of Medicine and Sagol School of Neuroscience, Tel Aviv University, Israel (D.G., M.C., E.M.); Felsenstein Medical Research Center, Sackler Faculty of Medicine, Tel Aviv University, Petah Tikva, Israel (M.C., E.M.); Developmental Imaging and Psychopathology Lab, University of Geneva School of Medicine, Switzerland (M.S., S.E.); Department of Genetic Medicine, UNIGE and iGE3 Institute of Genetics and Genomics of Geneva, University of Geneva Medical Center, Switzerland (S.E.A.); Marcus Autism Center, Children's Healthcare of Atlanta, GA (K.C.); Division of Pediatric Cardiovascular Surgery, Children's Hospital of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Surgery, Medical College of Wisconsin, Milwaukee (A.T.-M., M.E.M.); Department of Medical Genetics, Bambino Gesù Hospital, Rome, Italy (M.C.D., B.D.); Department of Pediatrics, La Sapienza University of Rome, Italy (B.M.); Department of Medical Genetics, Aix Marseille University, APHM, GMGF, Timone Hospital, France (N.P., T.B.); Department of Psychiatry and Biobehavioral Sciences, Semel Institute for Neuroscience and Human Behavior, University of California at Los Angeles (L.K.-W., C.E.B.); Department of Genetics, Polish Mother's Memorial Hospital, Research Institute, Łódź, Poland (M.P., W.H.); Department of Cardiology and Division of Genetics, Boston Children's Hospital, MA (A.E.R.); M.I.N.D. Institute and Department of Psychiatry and Behavioral Sciences (F.T.) and M.I.N.D. Institute and Department of Biochemistry and Molecular Medicine (T.J.S.), University of California, Davis; Department of Psychiatry and Psychology, University of Maastricht, The Netherlands (E.D.A.V.D., T.A.v.A.); Department of Psychiatry and Behavioral Sciences, and Program in Neuroscience, SUNY Upstate Medical University, Syracuse, NY (T.A.v.A., W.R.K.); Department of Human Genetics, Emory University School of Medicine, Atlanta, GA (H.R.J., D.J.C.); Department of Biostatistics and Bioinformatics, Emory University Rollins School of Public Health, Atlanta, GA (H.R.J.); and Human Genetics Center and Department of Epidemiology, Human Genetics and Environmental Sciences, UTHealth School of Public Health, Houston, TX (A.J.A., L.E.M.).

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http://dx.doi.org/10.1161/CIRCGENETICS.116.001690DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5647121PMC
October 2017

High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.

Am J Med Genet A 2017 Apr 12;173(4):858-867. Epub 2017 Feb 12.

Center for Human Genetics, University Hospital Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.38094DOI Listing
April 2017

Malformations of the middle and inner ear on CT imaging in 22q11 deletion syndrome.

Am J Med Genet A 2016 11 8;170(11):2975-2983. Epub 2016 Sep 8.

Department of Otorhinolaryngology-Head and Neck Surgery, University Hospitals Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ajmg.a.37872DOI Listing
November 2016

The importance of understanding cognitive trajectories: the case of 22q11.2 deletion syndrome.

Authors:
Ann Swillen

Curr Opin Psychiatry 2016 Mar;29(2):133-7

aDepartment of Human Genetics bDepartment of Rehabilitation Sciences, KU Leuven cCenter of Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.

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http://dx.doi.org/10.1097/YCO.0000000000000231DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5414032PMC
March 2016

Psychotic disorder associated with 22q11.2 duplication syndrome.

Psychiatry Res 2016 Feb 17;236:206-207. Epub 2015 Dec 17.

Department of Human Genetics, University Hospital Leuven, Belgium.

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http://dx.doi.org/10.1016/j.psychres.2015.12.019DOI Listing
February 2016

22q11.2 deletion syndrome.

Nat Rev Dis Primers 2015 11 19;1:15071. Epub 2015 Nov 19.

The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, and Clinical Genetics Research Program, Centre for Addiction and Mental Health, University of Toronto, Toronto, Ontario, Canada.

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http://www.nature.com/articles/nrdp201571
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http://dx.doi.org/10.1038/nrdp.2015.71DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4900471PMC
November 2015

Practical guidelines for managing adults with 22q11.2 deletion syndrome.

Genet Med 2015 Aug 8;17(8):599-609. Epub 2015 Jan 8.

1] The Dalglish Family Hearts and Minds Clinic for 22q11.2 Deletion Syndrome, Toronto General Hospital, University Health Network, Toronto, Ontario, Canada [2] Clinical Genetics Research Program, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [3] Department of Psychiatry and Toronto General Research Institute, University Health Network, Toronto, Ontario, Canada [4] Department of Psychiatry, University of Toronto, Toronto, Ontario, Canada [5] Institute of Medical Science, University of Toronto, Toronto, Ontario, Canada [6] Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, Toronto, Ontario, Canada [7] Division of Cardiology, Department of Medicine, University Health Network, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1038/gim.2014.175DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526275PMC
August 2015

Developmental trajectories in 22q11.2 deletion.

Am J Med Genet C Semin Med Genet 2015 Jun 18;169(2):172-81. Epub 2015 May 18.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5061035PMC
http://dx.doi.org/10.1002/ajmg.c.31435DOI Listing
June 2015

3 generation pedigree with paternal transmission of the 22q11.2 deletion syndrome: Intrafamilial phenotypic variability.

Eur J Med Genet 2015 Apr 3;58(4):244-8. Epub 2015 Feb 3.

Centre of Human Genetics, University Hospitals Leuven, Belgium & Department of Human Genetics, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2015.01.008DOI Listing
April 2015

Presenting symptoms in adults with the 22q11 deletion syndrome.

Eur J Med Genet 2014 Mar 24;57(4):157-62. Epub 2014 Feb 24.

Center for Human Genetics, KU Leuven, Belgium.

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http://dx.doi.org/10.1016/j.ejmg.2014.02.008DOI Listing
March 2014

Social phenotypes in genetic syndromes.

J Intellect Disabil Res 2012 Oct;56(10):919-21

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http://doi.wiley.com/10.1111/j.1365-2788.2012.01620.x
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http://dx.doi.org/10.1111/j.1365-2788.2012.01620.xDOI Listing
October 2012

COMT Val(158) met genotype and striatal D(2/3) receptor binding in adults with 22q11 deletion syndrome.

Synapse 2011 Sep 26;65(9):967-70. Epub 2011 Apr 26.

Department of Psychiatry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1002/syn.20932DOI Listing
September 2011

Kinematic movement strategies in primary school children with 22q11.2 Deletion Syndrome compared to age- and IQ-matched controls during visuo-manual tracking.

Res Dev Disabil 2010 May-Jun;31(3):768-76. Epub 2010 Feb 23.

Department of Rehabilitation Sciences, Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Tervuursevest 101, 3001 Heverlee, Belgium.

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http://dx.doi.org/10.1016/j.ridd.2010.01.019DOI Listing
June 2010

Prospective control abilities during visuo-manual tracking in children with 22q11.2 Deletion syndrome compared to age- and IQ-matched controls.

Res Dev Disabil 2010 May-Jun;31(3):634-41. Epub 2010 Feb 23.

Department of Rehabilitation Sciences, Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Tervuursevest 101, 3001 Heverlee (Leuven), Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S089142221000003
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http://dx.doi.org/10.1016/j.ridd.2010.01.002DOI Listing
June 2010

Mathematical learning disabilities in children with 22q11.2 deletion syndrome: a review.

Dev Disabil Res Rev 2009 ;15(1):4-10

Centre for Parenting, Child Welfare and Disabilities, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1002/ddrr.44DOI Listing
July 2009

Basic number processing and difficulties in single-digit arithmetic: evidence from Velo-Cardio-Facial Syndrome.

Cortex 2009 Feb 1;45(2):177-88. Epub 2008 Feb 1.

Centre for Disability, Special Needs Education, and Child Care, University of Leuven, Belgium.

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http://dx.doi.org/10.1016/j.cortex.2007.06.003DOI Listing
February 2009

Ocular findings in children with a microdeletion in chromosome 22q11.2.

Eur J Pediatr 2008 Jul 18;167(7):751-5. Epub 2007 Aug 18.

Department of Ophthalmology, University Hospitals Leuven-St-Rafael, Leuven, Belgium.

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http://dx.doi.org/10.1007/s00431-007-0582-0DOI Listing
July 2008

Motor development in school-aged children with 22q11 deletion (velocardiofacial/DiGeorge syndrome).

Dev Med Child Neurol 2007 Mar;49(3):210-3

Faculty of Kinesiology and Rehabilitation Sciences, Katholieke Universiteit Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/j.1469-8749.2007.00210.xDOI Listing
March 2007

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect.

Dev Med Child Neurol 2005 Dec;47(12):797-802

Department of Human Genetics, University Hospital Gasthuisberg, University of Leuven, Herestraat 49, 3000 Leuven, Belgium.

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https://www.researchgate.net/profile/Ann_Swillen/publication
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http://dx.doi.org/10.1017/S0012162205001696DOI Listing
December 2005

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.

Eur J Med Genet 2005 Jul-Sep;48(3):339-45

Centre for Human Genetics, University Hospital Gasthuisberg, Herestraat 49, 3000 Leuven, Belgium.

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http://linkinghub.elsevier.com/retrieve/pii/S176972120500094
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http://dx.doi.org/10.1016/j.ejmg.2005.04.010DOI Listing
November 2005

Atypical neuropsychological profile in a boy with 22q11.2 Deletion Syndrome.

Child Neuropsychol 2005 Feb;11(1):87-108

Department of Pediatrics, K.U.Leuven, Medical School, Herestraat 49, B-3000 Leuven, Belgium.

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http://dx.doi.org/10.1080/09297040590911220DOI Listing
February 2005

Velocardiofacial syndrome presenting as distal arthrogryposis.

Eur J Pediatr 2004 Jun;163(6):329-30

Centre for Human Genetics, University Hospital Leuven, Herestraat 49, 3000 Leuven, Belgium.

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http://dx.doi.org/10.1007/s00431-004-1429-6DOI Listing
June 2004