Intellectual developmental disorder with cardiac arrhythmia syndrome in a family caused by GNB5 variation and literature review

Objective: To explore the clinical characteristics of intellectual developmental disorder with cardiac arrhythmia syndrome (IDDCA) in a family caused by GNB5 gene variation and to review the literature. Methods: The clinical and genetic data of an infant with IDDCA, who visited Shenzhen Children...

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Bibliographische Detailangaben
Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 58(2020), 10 vom: 02. Okt., Seite 833-837
1. Verfasser: Mai, J H (VerfasserIn)
Weitere Verfasser: Ou, Z H, Chen, L, Duan, J, Liao, J X, Han, C X
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2020
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Case Reports Journal Article Review Epilepsy Genes, GNB5 Mental retardation Sick sinus syndrome GNB5 protein, human GTP-Binding Protein beta Subunits