Clinical and genetic evaluation of children with short stature of unknown origin.

doi:10.1186/s12920-023-01626-4

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Article

Clinical and genetic evaluation of children with short stature of unknown origin.

BMC medical genomics - 21 Aug 2023

Zhao Qianqian, Li Yanying, Shao Qian, Zhang Chuanpeng, Kou Shuang, Yang Wanling, Zhang Mei, Ban Bo

Abstract excerpt

BACKGROUND: Short stature is a common human trait. More severe and/or associated short stature is usually part of the presentation of a syndrome and may be a monogenic disease. The present study aimed to identify the genetic etiology of children with short stature of unknown origin. METHODS: A total of 232 children with short stature of unknown origin from March 2013 to May 2020 were enrolled in this study. Whole...

Topics

Humans
Child
Dwarfism
Growth Disorders
Genetic Testing
Mutation

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PMID: 37605180
DOI: 10.1186/s12920-023-01626-4
PMCID: PMC10441754

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