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Article

Genotype and phenotype in hypochondroplasia.

The Journal of pediatrics - 1 Jul 1998

Ramaswami U, Rumsby G, Hindmarsh P C, Brook C G

Abstract excerpt

Mutations in the tyrosine kinase domain of fibroblast growth factor receptor gene (FGFR3) have been described in some cases of hypochondroplasia (Hch). We screened 65 children with Hch diagnosed by clinical and radiologic criteria for 2 previously described mutations, C1620A and C1620C in FGFR3; 28 (43%) of 65 patients were heterozygous for the C1620A transversion resulting in lysine to asparagine substitution at...

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Identifiers

PMID: 9672519
DOI: 10.1016/s0022-3476(98)70186-6

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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