Publications by authors named "Pauline Le Tanno"

8Publications

De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas.

Am J Hum Genet 2020 06 21;106(6):830-845. Epub 2020 May 21.

Centre Hospitalier Universitaire Nantes, Service de Génétique Médicale, 44000 Nantes, France; Centre Hospitalier Universitaire Toulouse, Service de Génétique Médicale, 31000 Toulouse, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2020.04.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7273536PMC
June 2020

The diagnostic workup in a patient with AMC: Overview of the clinical evaluation and paraclinical analyses with review of the literature.

Am J Med Genet C Semin Med Genet 2019 09 1;181(3):337-344. Epub 2019 Aug 1.

Robert Wood Johnson School of Medicine, Rutgers University, New Brunswick, New Jersey, USA.

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http://dx.doi.org/10.1002/ajmg.c.31730DOI Listing
September 2019

Maternal complex chromosomal rearrangement leads to TCF12 microdeletion in a patient presenting with coronal craniosynostosis and intellectual disability.

Am J Med Genet A 2014 Jun 19;164A(6):1530-6. Epub 2014 Mar 19.

Laboratoire de Génétique Chromosomique, Département de Génétique et Procréation, Hôpital Couple Enfant, CHU Grenoble, Grenoble, France.

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http://doi.wiley.com/10.1002/ajmg.a.36467
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http://dx.doi.org/10.1002/ajmg.a.36467DOI Listing
June 2014