Publications by authors named "Luis O Rohena"

5Publications

Rare presentation of 6q16.3 microdeletion syndrome with severe upper limb reduction defects and duodenal atresia.

Clin Case Rep 2017 06 26;5(6):905-914. Epub 2017 Apr 26.

Division of Medical Genetics Department of Pediatrics San Antonio Military Medical Center San Antonio Texas.

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http://dx.doi.org/10.1002/ccr3.916DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5457987PMC
June 2017

Tuberous sclerosis complex: Five new things.

Neurol Clin Pract 2016 Aug;6(4):339-347

Divisions of Child Neurology (DTH), Hematology/Oncology (SLW), and Medical Genetics (LOR), Department of Pediatrics, San Antonio Military Medical Center, JBSA - Ft. Sam Houston, TX; and Pediatric Epilepsy Program (EAT), Department of Neurology, Massachusetts General Hospital, Boston.

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http://cp.neurology.org/lookup/doi/10.1212/CPJ.0000000000000
Publisher Site
http://dx.doi.org/10.1212/CPJ.0000000000000260DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727703PMC
August 2016

Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation.

Am J Med Genet A 2016 08 13;170(8):2186-90. Epub 2016 May 13.

Division of Pediatric Cardiology, Department of Pediatric and Adolescent Medicine, Mayo Clinic, Rochester, Minnesota.

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http://doi.wiley.com/10.1002/ajmg.a.37745
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.37745DOI Listing
August 2016

Early-onset heart failure, alopecia, and cutaneous abnormalities associated with a novel compound heterozygous mutation in desmoplakin.

Pediatr Dermatol 2015 Jan-Feb;32(1):102-8. Epub 2014 Dec 16.

College of Physicians and Surgeons, Columbia University, New York, New York.

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http://doi.wiley.com/10.1111/pde.12484
Publisher Site
http://dx.doi.org/10.1111/pde.12484DOI Listing
October 2015