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Updated: Jan 6, 2026

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内部IGF1R变异导致异常拼接,矮身和神经障碍

Liya Kerem1,2, Jonathan Rips2,3, Adam Zaretsky4

  • 1Division of Pediatric Endocrinology, Department of Pediatrics, Hadassah Medical Organization, Jerusalem, Israel.

Journal of molecular endocrinology
|October 3, 2025
PubMed
概括

胰岛素样生长因子1受体 (IGF1R) 基因中的一种新型遗传变异导致异常拼接,导致妊娠年龄 (SGA) 较小的儿童的矮身. 这一发现强调了用于诊断生长障碍的基因测试.

关键词:
在IGF1R的变种中,IGF1R的变种.增长的增长增长的增长增长的增长.内部保留 内部保留这是错误的拼写错误.神经系统损伤,神经系统损伤.矮身高 矮身高的人对于妊娠年龄来说很小 (SGA)整体外基因组测序 (WES) 测序

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