Article
Comprehensive genetic exploration of skeletal dysplasia using targeted exome sequencing.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jun 2016
Bae Jun-Seok, Kim Nayoung K D, Lee Chung, Kim Sang Cheol, Lee Hey Ran, Song Hae-Ryong, Park Kun Bo, Kim Hyun Woo, Lee Soon Hyuck, Kim Ha Yong, Lee Soon Chul, Jeong Changhoon, Park Moon Seok, Yoo Won Joon, Chung Chin Youb, Choi In Ho, Kim Ok-Hwa, Park Woong-Yang, Cho Tae-Joon
Abstract excerpt
PURPOSE: The purpose of this study was to evaluate the clinical utility of targeted exome sequencing (TES) as a molecular diagnostic tool for patients with skeletal dysplasia. METHODS: A total of 185 patients either diagnosed with or suspected to have skeletal dysplasia were recruited over a period of 3 years. TES was performed for 255 genes associated with the pathogenesis of skeletal dysplasia, and candidate...
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