[Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].

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Article

[Clinical analysis and genetic diagnosis of short-limb inherited short stature diseases in children].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Nov 2013

Li Fang, Ma Hong-Wei, Song Ying, Hu Man, Ren Shuang, Yu Ya-Fen, Zhao Gui-Jie

Abstract excerpt

OBJECTIVE: To analyze the clinical manifestations, bone X-ray findings and genetic analysis results of three short-limb inherited short stature diseases: achondroplasia (ACH), hypochondroplasia (HCH) and pseudoachondroplasia (PSACH). METHODS: The clinical manifestations, bone X-ray findings, and genetic analysis results of 10 children with genetically confirmed short-limb inherited short stature diseases,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Limb Deformities, Congenital

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Open in PubMed

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PMID: 24229583

Genes

FGFR3
COMP

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.