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

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...

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Detalles Bibliográficos
Autores principales: Shen, Fang, Yang, Yongjia, Li, Pengcheng, Zheng, Yu, Luo, Zhenqing, Fu, Yuyan, Zhu, Guanghui, Mei, Haibo, Chen, Shanlin, Zhu, Yimin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8801148/
https://www.ncbi.nlm.nih.gov/pubmed/34953066
http://dx.doi.org/10.1002/mgg3.1850

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