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Article

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis.

Molecular genetics & genomic medicine - 1 Jan 2022

Shen Fang, Yang Yongjia, Li Pengcheng, Zheng Yu, Luo Zhenqing, Fu Yuyan, Zhu Guanghui, Mei Haibo, Chen Shanlin, Zhu Yimin

Abstract excerpt

BACKGROUND: SMAD6 variants have been reported in patients with radioulnar synostosis (RUS). This study aimed to investigate the genotypes and phenotypes for a large cohort of patients with RUS having mutant SMAD6. METHODS: Genomic DNA samples were isolated from 251 RUS sporadic patients (with their parents) and 27 RUS pedigrees. Sanger sequencing was performed for the SMAD6 coding regions. For positive probands,...

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Identifiers

PMID: 34953066
DOI: 10.1002/mgg3.1850
PMCID: PMC8801148

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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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