Li-Juan Chen Zhong-Min You Wen-Hong Chen Si Yang Chun-Chen Feng Hai-Yong Wang Ting Wang Yuan-Yuan Zhu
10.3389/fped.2023.1122513
Front Pediatr
2023 Mar 30;11:1122513.
adnp helsmoortel–van der aa syndrome autism spectrum disorder case report developmental delay
CC BY
https://pubmed.ncbi.nlm.nih.gov/37063667/
Case Reports
PMC10097981
37063667
Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report
2023