Your browser doesn't support javascript.
loading
Recurrent mosaic MTOR c.5930C > T (p.Thr1977Ile) variant causing megalencephaly, asymmetric polymicrogyria, and cutaneous pigmentary mosaicism: Case report and review of the literature.
Handoko, Maureen; Emrick, Lisa T; Rosenfeld, Jill A; Wang, Xia; Tran, Alyssa A; Turner, Alicia; Belmont, John W; Lee, Brendan H; Bacino, Carlos A; Chao, Hsiao-Tuan.
Affiliation
  • Handoko M; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
  • Emrick LT; Section of Child Neurology, Texas Children's Hospital, Houston, Texas.
  • Rosenfeld JA; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, Texas.
  • Wang X; Section of Child Neurology, Texas Children's Hospital, Houston, Texas.
  • Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Turner A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Belmont JW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
  • Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.
Am J Med Genet A ; 179(3): 475-479, 2019 03.
Article in En | MEDLINE | ID: mdl-30569621
Subject(s)
Key words
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pigmentation Disorders / Malformations of Cortical Development / Megalencephaly / TOR Serine-Threonine Kinases / Mutation Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Country of publication:
Fulltext
Add to My VHL
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pigmentation Disorders / Malformations of Cortical Development / Megalencephaly / TOR Serine-Threonine Kinases / Mutation Limits: Child, preschool / Female / Humans Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2019 Document type: Article Country of publication: