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

• Main Authors: Shu-Han You (Author), Yun-Shien Lee (Author), Chueh-Pai Lee (Author), Chih-Peng Lin (Author), Chiao-Yun Lin (Author), Chia-Lung Tsai (Author), Yao-Lung Chang (Author), Po-Jen Cheng (Author), Tzu-Hao Wang (Author), Shuenn-Dyh Chang (Author)
• Format: Book
• Published: Elsevier, 2017-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Objective: Single-nucleotide polymorphism (SNP) microarrays and whole-exome sequencing (WES) are tools to precisely diagnose rare autosomal recessive (AR) diseases. In this study, SNP chip and WES were used to identify a mutated location in WDR34 in a baby born to consanguineous parents. Case report...