Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure
Clinical and Functional Characteristics of a Novel Heterozygous Mutation of the IGF1R Gene and IGF1R Haploinsufficiency due to Terminal 15q26.2->qter Deletion in Patients with Intrauterine Growth Retardation and Postnatal Catch-Up Growth Failure
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DOI：
10.1210/jc.2010-1789
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发表时间：
2011-01-01
影响因子：
5.8
通讯作者：
Yoo, Han-Wook
中科院分区：
文献类型：
--
作者：
Choi, Jin-Ho;Kang, Minji;Yoo, Han-Wook
内容：IGF1R基因突变可导致胎儿宫内发育迟缓和出生后生长障碍。目的：本研究的目的是描述IGF1R基因突变受试者的临床特征，并评估一种新的IGF1R突变的分子和功能特征。
Context: Mutations in the IGF1R gene result in intrauterine growth retardation and postnatal growth failure.Objective: The objective of this study was to describe the clinical features of subjects with a mutation in the IGF1R gene and to evaluate the molecular and functional characteristics of a novel IGF1R mutation.Subjects: Three children with unexplained intrauterine growth retardation (birth weight