A case of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures caused by PHF21A gene variation and review of literature

Objective: To discuss the clinical and genetic features of intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS). Methods: The clinical and genetic records of a patient who was diagnosed with IDDBCS caused by PHF21A gene vari...

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Veröffentlicht in:Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 61(2023), 8 vom: 02. Aug., Seite 726-730
1. Verfasser: Wu, F (VerfasserIn)
Weitere Verfasser: Ji, X N, Shen, M X, Gao, Y Y, Zhang, P P, Li, S P, Chen, Q
Format: Online-Aufsatz
Sprache:Chinese
Veröffentlicht: 2023
Zugriff auf das übergeordnete Werk:Zhonghua er ke za zhi = Chinese journal of pediatrics
Schlagworte:Review Case Reports English Abstract Journal Article PHF21A protein, human EC 3.5.1.- Histone Deacetylases EC 3.5.1.98