Novel variants in the CLCN4 gene associated with syndromic X-linked intellectual disability

OBJECTIVE: The dysfunction of the CLCN4 gene can lead to X-linked intellectual disability and Raynaud–Claes syndrome (MRXSRC), characterized by severe cognitive impairment and mental disorders. This study aimed to investigate the genetic defects and clinical features of Chinese children with CLCN4 v...

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Detalles Bibliográficos
Autores principales: Li, Sinan, Zhang, Wenxin, Liang, Piao, Zhu, Min, Zheng, Bixia, Zhou, Wei, Wang, Chunli, Zhao, Xiaoke
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542403/
https://www.ncbi.nlm.nih.gov/pubmed/37789889
http://dx.doi.org/10.3389/fneur.2023.1096969

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10542403/
https://www.ncbi.nlm.nih.gov/pubmed/37789889
http://dx.doi.org/10.3389/fneur.2023.1096969

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