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Article

Asn540Lys mutation in fibroblast growth factor receptor 3 and phenotype in hypochondroplasia.

Acta paediatrica (Oslo, Norway : 1992) - 1 Sept 2000

Grigelioniené G, Eklöf O, Laurencikas E, Ollars B, Hertel N T, Dumanski J P, Hagenäs L

Abstract excerpt

UNLABELLED: Hypochondroplasia is characterized by a disproportionate short stature with rhizomelic shortening of the limbs. Amino acid substitutions Asn540Lys, Asn540Thr and Ile538Val in the fibroblast growth factor receptor 3 (FGFR3) are considered to cause hypochondroplasia. In this study we examined the FGFR3 gene for the previously described hypochondroplasia mutations and the phenotype of 23 probands with...

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Source

Identifiers

PMID: 11071087
DOI: 10.1080/713794579

Genes

FGFR3
FGFR1
FGFR2

Provenance

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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