A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family

BACKGROUND: Synpolydactyly type 1 (SPD1), also known as syndactyly type II, is an autosomal dominant limb deformity generally results in webbing of 3rd and 4th fingers, duplication of 4th or 5th toes. It is most commonly caused by mutation in HOXD13 gene. In this study, a five-generation Chinese fam...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Zaib, Tahir, Ji, Wei, Saleem, Komal, Nie, Guangchen, Li, Chao, Cao, Lin, Xu, Baijun, Dong, Kexian, Yu, Hanfei, Hao, Xuguang, Xue, Yan, Si, Shuhan, Jia, Xueyuan, Wu, Jie, Zhang, Xuelong, Guan, Rongwei, Ji, Guohua, Bai, Jing, Chen, Feng, Liu, Yong, Sun, Wenjing, Fu, Songbin
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6929446/
https://ncbi.nlm.nih.gov/pubmed/31870337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0908-6
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados