Article
High diagnostic yield of clinically unidentifiable syndromic growth disorders by targeted exome sequencing.
Clinical genetics - 1 Dec 2017
Kim Yoo-Mi, Lee Yun-Jin, Park Jae Hong, Lee Hyoung-Doo, Cheon Chong Kun, Kim Su-Young, Hwang Jae-Yeon, Jang Ja-Hyun, Yoo Han-Wook
Abstract excerpt
BACKGROUND: As syndromic short stature and overgrowth are heterogeneous and the list of causative genes is rapidly expanding, there is an unmet need for identifying genetic causes based on conventional gene testing or karyotyping. Early diagnosis leads to the proper management of the patient and providing genetic counseling for family members at risk in a timely manner. MATERIALS AND METHODS: We conducted...
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