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

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

Abstract 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 Chi...

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Bibliographic Details
Main Authors: Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao, Baijun Xu, Kexian Dong, Hanfei Yu, Xuguang Hao, Yan Xue, Shuhan Si, Xueyuan Jia, Jie Wu, Xuelong Zhang, Rongwei Guan, Guohua Ji, Jing Bai, Feng Chen, Yong Liu, Wenjing Sun, Songbin Fu
Format: Article
Language:English
Published: BMC 2019-12-01
Series:BMC Medical Genetics
Subjects:
SPD1
HOXD13
Whole genome sequencing
Variable expressivity
Online Access:https://doi.org/10.1186/s12881-019-0908-6

Internet

https://doi.org/10.1186/s12881-019-0908-6

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