Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature-Reference-Cited by-同舟云学术

Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature

Published:2018-12-19 Issue:3 Volume:179 Page:475-479
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Handoko Maureen¹²,Emrick Lisa T.¹²³,Rosenfeld Jill A.³,Wang Xia³,Tran Alyssa A.³,Turner Alicia³,Belmont John W.³,Lee Brendan H.³,Bacino Carlos A.³,Chao Hsiao‐Tuan¹²⁴^ORCID,

Affiliation:

1. Department of Pediatrics, Section of Neurology and Developmental NeuroscienceBaylor College of Medicine Houston Texas

2. Section of Child NeurologyTexas Children's Hospital Houston Texas

3. Department of Molecular and Human GeneticsBaylor College of Medicine Houston Texas

4. Jan and Dan Duncan Neurological Research Institute Houston Texas

Funder

American Academy of Neurology

Child Neurology Foundation

National Institute of Neurological Disorders and Stroke

National Institutes of Health

NIH Office of the Director

Baylor College of Medicine