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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929446/
https://www.ncbi.nlm.nih.gov/pubmed/31870337
http://dx.doi.org/10.1186/s12881-019-0908-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6929446/
https://www.ncbi.nlm.nih.gov/pubmed/31870337
http://dx.doi.org/10.1186/s12881-019-0908-6

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