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

BACKGROUND: Helsmoortel–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 caus...

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Detalles Bibliográficos
Autores principales: Chen, Li-juan, You, Zhong-min, Chen, Wen-hong, Yang, Si, Feng, Chun-chen, Wang, Hai-yong, Wang, Ting, Zhu, Yuan-yuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097981/
https://www.ncbi.nlm.nih.gov/pubmed/37063667
http://dx.doi.org/10.3389/fped.2023.1122513

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10097981/
https://www.ncbi.nlm.nih.gov/pubmed/37063667
http://dx.doi.org/10.3389/fped.2023.1122513

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