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Article

SHOX deficiency in short Taiwanese children: A single-center experience.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Oct 2018

Tung Yi-Ching, Lee Ni-Chung, Hwu Wuh-Liang, Liu Shih-Yao, Lee Cheng-Ting, Chien Yin-Hsiu, Tsai Wen-Yu

Abstract excerpt

BACKGROUND: SHOX deficiency is a common cause of idiopathic short stature. The aim of this study was to describe the clinical characteristics and molecular findings of patients with SHOX deficiency in Taiwan. METHODS: A phenotype scoring system was used to evaluate several anthropometric measures in patients with idiopathic short stature. Twenty-three patients with a phenotype score >7 were enrolled for SHOX gene...

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Source

Identifiers

PMID: 29254682
DOI: 10.1016/j.jfma.2017.11.014

Genes

SHOX

Provenance

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