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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...

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Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11472579-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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