单倍率不足
小头畸形
无意识
适配器分子crk
身材矮小
生长迟缓
医学
未能茁壮成长
儿科
颅面
内科学
内分泌学
生物
遗传学
怀孕
基因
表型
信号转导衔接蛋白
受体
精神科
作者
Annalisa Deodati,Elena Inzaghi,Daniela Germani,Francesca Fausti,Stefano Cianfarani
摘要
Our results suggest that 17p13.3 microdeletion involving CRK affects both GH and IGF1 signaling ultimately leading to pre- and postnatal growth retardation, secondary to partial insensitivity to GH/IGF1. rhGH therapy may be considered to reduce the height deficit in these patients, though data on adult height are lacking.
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