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

• Main Authors: Li-juan Chen (Author), Zhong-min You (Author), Wen-hong Chen (Author), Si Yang (Author), Chun-chen Feng (Author), Hai-yong Wang (Author), Ting Wang (Author), Yuan-yuan Zhu (Author)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2023-03-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...