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Article

Snijders Blok-Campeau syndrome caused by CHD3 gene mutation: a case report.

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jan 2000

Fan Xi-Yong

Abstract excerpt

A one-year and two-month old girl indicated large head circumference, widely spaced eyes, narrow palpebral fissures, strabismus on the right eye, broad and low nasal bridge and low-set ears. She had knee over extension and foot eversion on both sides while standing with help. She also had hypotonia and was not able to stand or walk independently. She can say "ma ma" unconsciously. In the neuropsychological...

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PMID: 34535214
DOI: 10.7499/j.issn.1008-8830.2106091
PMCID: PMC8480161

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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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