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Article

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

BMC pediatrics - 3 Sept 2021

Xu Xin, Lu Fen, Zhang Li, Li Hongying, Du Senjie, Tang Jian

Abstract excerpt

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 which encodes the 2Cl-/H+ exchanger ClC-4 prominently expressed in brain. CASE PRESENTATION: We present a 3-year-old...

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Identifiers

PMID: 34479510
DOI: 10.1186/s12887-021-02860-4
PMCID: PMC8414764

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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