Article
IGF1R Variants in Patients With Growth Impairment: Four Novel Variants and Genotype-Phenotype Correlations.
The Journal of clinical endocrinology and metabolism - 1 Nov 2018
Yang Lin, Xu Dan-Dan, Sun Cheng-Jun, Wu Jing, Wei Hai-Yan, Liu Yu, Zhang Miao-Ying, Luo Fei-Hong
Abstract excerpt
Objective: IGF1R gene mutations have been associated with varying degrees of intrauterine and postnatal growth retardation, as well as microcephaly. Both autosomal-dominant and autosomal-recessive inheritance patterns have been reported. This study aimed to analyze the IGF1R gene in children with growth impairment using whole-exome sequencing (WES) and assess the clinical features with the autosomal-dominant and...
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