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

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

Abstract 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...

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Bibliographic Details
Main Authors: Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu
Format: Article
Language:English
Published: Wiley 2022-01-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
axial skeletal malformations
penetrance
pleiotropy
polydactyly
SMAD6 variants
Online Access:https://doi.org/10.1002/mgg3.1850

Internet

https://doi.org/10.1002/mgg3.1850

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