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Article

[Clinical phenotype and genetic analysis of MED13L syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Oct 2017

Meng Qing-Jie, He Xue-Lian, Xiao Han, Xia Qian, Bi Bo, Xiang Yun

Abstract excerpt

A boy aged 4 years and 2 months was found to have delayed language and motor development, instability of gait, poor eye contact, stereotyped behavior, and seizure at the age of 3 years. Physical examination showed special facial features, including plagiocephaly, blepharoptosis, wide nasal bridge, down-turned mouth corners at both sides, and low-set ears. There were only two knuckles at the little finger of the...

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Identifiers

PMID: 29046205
PMCID: PMC7389282

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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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