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Article

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

Taiwanese journal of obstetrics & gynecology - 1 Dec 2017

You Shu-Han, Lee Yun-Shien, Lee Chueh-Pai, Lin Chih-Peng, Lin Chiao-Yun, Tsai Chia-Lung, Chang Yao-Lung, Cheng Po-Jen, Wang Tzu-Hao, Chang Shuenn-Dyh

Abstract excerpt

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: The baby, born at 36 gestational weeks had a small thoracic cage, symmetric short proximal bones, and polydactyly....

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PMID: 29241935
DOI: 10.1016/j.tjog.2017.10.033

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