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Article

A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype.

BMC neurology - 19 Dec 2022

Shen Ruiyun, Li Yanyang, Liang Aiming, Li Shijie, Yang Chenlu, Huang Hongmei

Abstract excerpt

BACKGROUND: Lysine(K)-specific demethylase 5C (KDM5C) dysfunction causes X-linked syndromic intellectual developmental disorder Claes-Jensen type in male patients. The clinical presentations of female individuals with heterozygous KDM5C variations vary widely and are only now beginning to be characterized in detail. CASE PRESENTATION: Herein, we identified a novel de novo heterozygous nonsense variation of KDM5C...

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Identifiers

PMID: 36536324
DOI: 10.1186/s12883-022-03023-3
PMCID: PMC9762001

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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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