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Article

Speech and language delay in a patient with WDR4 mutations.

European journal of medical genetics - 1 Aug 2018

Chen Xiang, Gao Yanyan, Yang Lin, Wu Bingbing, Dong Xinran, Liu Bo, Lu Yulan, Zhou Wenhao, Wang Huijun

Abstract excerpt

Primordial dwarfism (PD) is mainly characterized by growth deficiency with heterogeneous phenotypes. A group of genes are known to be associated with PD or PD-related syndrome. WD repeat domain 4 (WDR4) is recently reported to be responsible for PD. Here we report a 6-year-old boy from a non-consanguineous couple with motor and speech delay as well as intellectual disability. Whole exome sequencing (WES)...

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Source

Identifiers

PMID: 29597095
DOI: 10.1016/j.ejmg.2018.03.007

Genes

WDR4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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