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Article

Hypochondroplasia and Acanthosis nigricans: a new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?

European journal of endocrinology - 1 Sept 2008

Castro-Feijóo Lidia, Loidi Lourdes, Vidal Anxo, Parajes Silvia, Rosón Elena, Alvarez Ana, Cabanas Paloma, Barreiro Jesús, Alonso Adela, Domínguez Fernando, Pombo Manuel

Abstract excerpt

BACKGROUND: Hypochondroplasia (HCH) is a skeletal dysplasia inherited in an autosomal dominant manner due, in most cases, to mutations in the fibroblast growth factor receptor 3 (FGFR3). Acanthosis nigricans (AN) is a velvety and papillomatous pigmented hyperkeratosis of the skin, which has been recognized in some genetic disorders more severe than HCH involving the FGFR3 gene. OBJECTIVE AND DESIGN: After initial...

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Identifiers

PMID: 18583390
DOI: 10.1530/EJE-08-0393

Genes

FGFR3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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