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Article

Skeletal development of achondroplasia: analysis of genotyped patients.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Aug 2001

Matsui Y, Kawabata H, Ozono K, Yasui N

Abstract excerpt

BACKGROUND: Achondroplasia is a skeletal dysplasia caused by substitution of arginine for glycine at codon 380 (G380R) mutation of the fibroblast growth factor receptor 3. To date, the developmental course of the phenotype (short stature and skeletal characteristics) has not been clarified in the genotyped population. METHODS: The relationship between age and clinical data (height, arm span and measurements of...

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Identifiers

PMID: 11472579
DOI: 10.1046/j.1442-200x.2001.01416.x

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