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Article

Comparison of clinical, radiological and molecular findings in Korean infants and children with achondroplasia and hypochondroplasia.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Oct 2005

Shin Young-Lim, Choi Jin-Ho, Kim Gu-Hwan, Yoo Han-Wook

Abstract excerpt

Achondroplasia (ACH) and hypochondroplasia (HCH) share clinical features characterized by disproportionate short stature with rhizomelic shortening of the limbs. In an attempt to clarify genotype-phenotype correlation in ACH and HCH, we investigated the presence of the previously identified mutations of FGFR3 in 26 patients with ACH- or HCH-mimicking features and compared clinical and radiographic findings...

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Share to Abnormalities, Multiple
Share to Achondroplasia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation, Missense

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 16355813
DOI: 10.1515/jpem.2005.18.10.999

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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