妇儿健康导刊2024，Vol.3Issue(22)：34-37,4.
TRPS1基因突变致毛发-鼻-指(趾)综合征Ⅲ型1例报告
A case report of tricho-rhino-phalangeal syndrome type Ⅲ caused by TRPS1 gene mutation
摘要
Abstract
This paper reports a case of tricho-rhino-phalangeal syndrome type Ⅲ diagnosed in Tianjin Women and Children Health Care Center.In this case,the child had short stature,short fingers,and delayed nervous system development.Genetic testing showed that the TRPS1 gene had a heterozygous mutation of c.2975C>T(p.Pro992Leu).After 32 months of treatment with Recombinant Human Growth Hormone,there was a significant increase in height without adverse reactions.关键词
毛发-鼻-指(趾)综合征/TRPS1基因/身材矮小/重组人生长激素Key words
Tricho-rhino-phalangeal syndrome/TRPS1 gene/Short stature/Recombinant Human Growth Hormone分类
医药卫生引用本文复制引用
宋琪,杜悦新..TRPS1基因突变致毛发-鼻-指(趾)综合征Ⅲ型1例报告[J].妇儿健康导刊,2024,3(22):34-37,4.基金项目
中华国际医学交流基金会儿科内分泌中青年医师成长科研基金项目(Z-2019-41-2201). （Z-2019-41-2201）
