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Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.
Aerden, Mio; Vallaeys, Lore; Holvoet, Maureen; De Waele, Liesbeth; Van Den Bogaert, Kris; Devriendt, Koen.
Afiliação
  • Aerden M; Center for Human Genetics, Department for Human Genetics, University Hospitals Leuven - Katholieke Universiteit Leuven, Leuven.
  • Vallaeys L; Department of Paediatrics, AZ Groeninge, Kortrijk.
  • Holvoet M; Center for Human Genetics, Department for Human Genetics, University Hospitals Leuven - Katholieke Universiteit Leuven, Leuven.
  • De Waele L; Department of Paediatrics, University Hospitals Leuven.
  • Van Den Bogaert K; Department of Development and Regeneration, Katholieke Universiteit Leuven, Leuven, Belgium.
  • Devriendt K; Center for Human Genetics, Department for Human Genetics, University Hospitals Leuven - Katholieke Universiteit Leuven, Leuven.
Clin Dysmorphol ; 30(3): 121-124, 2021 Jul 01.
Article em En | MEDLINE | ID: mdl-33605605
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transporte Vesicular / Síndromes Epilépticas Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Adaptadoras de Transporte Vesicular / Síndromes Epilépticas Tipo de estudo: Diagnostic_studies Limite: Child / Female / Humans / Pregnancy Idioma: En Ano de publicação: 2021 Tipo de documento: Article