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

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

Abstract 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...

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Bibliographic Details
Main Authors: Xin Xu, Fen Lu, Li Zhang, Hongying Li, Senjie Du, Jian Tang
Format: Article
Language:English
Published: BMC 2021-09-01
Series:BMC Pediatrics
Subjects:
X-linked syndromic mental retardation
CLCN4 gene
Exome sequencing
Variants
Case report
Online Access:https://doi.org/10.1186/s12887-021-02860-4

Internet

https://doi.org/10.1186/s12887-021-02860-4

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