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

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

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...

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Main 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
Format: Article
Language:English
Published: Elsevier 2017-12-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
WDR34
Short rib-polydactyly syndrome
SNP
Whole exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455917302723

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