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hrp0089p2-p209 | GH & IGFs P2 | ESPE2018

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

Yang Yu , Huang Hui , Li Yang , Xie Liling , Chen Ka , Xiong Ting , Wu Xian

Objective: To identify genetic mutations of a pedigree affected by severe short stature in Chinese populations for the first time.Methods: Auxological and endocrinological profiles were measured. Targeted next-generation sequencing (NGS) analyses comprising 277 shorted stature-associated candidate genes and 19 related copy number variation (CNV) regions were used to identify gene mutations in the proband. Three web-based software programs (SIFT, PolyPhen...

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ESPE Abstracts

A Novel Mutation of Type I Insulin-like Growth Factor Receptor (IGF1R) Gene in a Severe Short Stature Pedigree Identified by Targeted Next-generation Sequencing (NGS)

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