Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report

Helsmoortel–van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report

BackgroundHelsmoortel–van der Aa syndrome, also known as ADNP syndrome, is a condition that causes developmental delay, language impairment, autism spectrum, and variable extraneurologic features. It is caused by heterozygous mutations in the ADNP gene on chromosome 20q13. Most of the genetic causes...

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Bibliographic Details
Main Authors: Li-juan Chen, Zhong-min You, Wen-hong Chen, Si Yang, Chun-chen Feng, Hai-yong Wang, Ting Wang, Yuan-yuan Zhu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-03-01
Series:Frontiers in Pediatrics
Subjects:
Helsmoortel–van der Aa syndrome
ADNP
developmental delay
autism spectrum disorder
case report
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2023.1122513/full

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https://www.frontiersin.org/articles/10.3389/fped.2023.1122513/full

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