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  1. Article

    Open Access

    Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

    Congenital cataract is a Mendelian disorder that frequently causes blindness in infants. To date, various cataract-associated loci have been mapped; more than 30 genes have been identified by linkage analysis....

    Xueyuan Jia, Feng Zhang, **g Bai, Linghan Gao, Xuelong Zhang… in BMC Medical Genetics (2013)

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  2. Article

    Open Access

    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 ...

    Tahir Zaib, Wei Ji, Komal Saleem, Guangchen Nie, Chao Li, Lin Cao… in BMC Medical Genetics (2019)

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