Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Clinical impact and in vitro characterization of ADNP variants in pediatric patients

Abstract Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; hence, it is also called ADNP syndrome. ADNP is a multitasking protein with the function as a transcription factor, playing a criti...

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Main Authors: Chuanhui Ge, Yuxin Tian, Chunchun Hu, Lianni Mei, Dongyun Li, Ping Dong, Ying Zhang, Huiping Li, Daijing Sun, Wenzhu Peng, Xiu Xu, Yan Jiang, Qiong Xu
Format: Article
Language:English
Published: BMC 2024-01-01
Series:Molecular Autism
Subjects:
Helsmoortel–Van der Aa syndrome
HVDAS
ADNP syndrome
ADNP variants
Autism spectrum disorder
Global developmental delay
Online Access:https://doi.org/10.1186/s13229-024-00584-7

Internet

https://doi.org/10.1186/s13229-024-00584-7

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