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...

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Опубликовано в: :BMC Med Genet
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2019
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Research Article
Online-ссылка: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
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