Identification of a c.544C > T mutation in WDR34 as a deleterious recessive allele of short rib-polydactyly syndrome

In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents.

Source: Taiwanese Journal of Obstetrics and Gynecology - December 1, 2017 Category: OBGYN Authors: Shu-Han You, Yun-Shien Lee, Chueh-Pai Lee, Chih-Peng Lin, Chiao-Yun Lin, Chia-Lung Tsai, Yao-Lung Chang, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang Tags: Case Report Source Type: research