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