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Article

A de novo mutation of SALL4 in a Chinese family with Okihiro syndrome.

Molecular medicine reports - 1 Apr 2022

Ma Xiuli, Huang Rui, Li Guo, Zhang Tiesong, Ma Jing

Abstract excerpt

Okihiro syndrome is an autosomal dominant condition characterized by Duane anomaly and radial ray defects. The present study aimed to analyze the clinical manifestations of a patient with Okihiro syndrome and perform genetic testing on the proband and his family to determine the biological pathogenesis. Clinical data were collected from the proband and his family and genomic DNA was extracted from peripheral...

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Identifiers

PMID: 35179219
DOI: 10.3892/mmr.2022.12647
PMCID: PMC8867470

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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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