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Article

Acanthosis nigricans in a child with mild osteochondrodysplasia and K650Q mutation in the FGFR3 gene.

American journal of medical genetics. Part A - 15 Dec 2007

Leroy Jules G, Nuytinck Lieve, Lambert Jo, Naeyaert Jean-Marie, Mortier Geert R

Abstract excerpt

A girl with a mild sporadic osteochondrodysplasia (OCD) similar to hypochondroplasia but with significant short stature is reported. She has been followed clinically between the ages of 9 months and 14 years. Growth remained normal throughout childhood with stature evolving about 3.5 SDs under the mean for age. By 8 years of age gradually appearing acanthosis nigricans (AN) in the neck and flanks was...

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Share to Receptor, Fibroblast Growth Factor, Type 3

Source

Identifiers

PMID: 18000903
DOI: 10.1002/ajmg.a.31966

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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