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

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 ...

Source: BMC Medical Genetics - December 23, 2019 Category: Genetics & Stem Cells 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 & hellip; Tags: Research article Source Type: research