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Article

Heterozygous loss of OSR2 can cause radioulnar synostosis with ancillary skeletal manifestations.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2026

Deng Mei, Liu Cheng, Shen Fang, Zheng Yu, Luo Zhenqing, Wang Hua, Zhu Guanghui, Yang Yongjia

Abstract excerpt

PURPOSE: Although radioulnar synostosis (RUS) and other skeletal anomalies are features of the 8q22.2q22.3 microdeletion syndrome, the precise genetic etiology of RUS remains undefined. Here, we aimed to define the genetic basis of joint fusion in this syndrome. METHODS: We performed combined chromosomal microarray, high-throughput ligation-dependent probe amplification, and exome sequencing on RUS probands and...

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Identifiers

PMID: 41424369
DOI: 10.1016/j.gim.2025.101664

Genes

OSR2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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