Novel CLCN4 variant associated with syndromic X-linked intellectual disability in a Chinese girl: a case report

BACKGROUND: The Raynaud-Claes type of X-linked syndromic mental retardation (MRXSRC) is a very rare condition, by intellectual disability ranged from borderline to profound, impaired language development, brain abnormalities, facial dysmorphisms and seizures. MRXSRC is caused by variants in CLCN4 wh...

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Detalles Bibliográficos
Autores principales: Xu, Xin, Lu, Fen, Zhang, Li, Li, Hongying, Du, Senjie, Tang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414764/
https://www.ncbi.nlm.nih.gov/pubmed/34479510
http://dx.doi.org/10.1186/s12887-021-02860-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8414764/
https://www.ncbi.nlm.nih.gov/pubmed/34479510
http://dx.doi.org/10.1186/s12887-021-02860-4

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