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Article

Analysis of the FGFR3 gene in Japanese patients with achondroplasia and hypochondroplasia.

Endocrine journal - 1 Mar 2000

Katsumata N, Mikami S, Nagashima-Miyokawa A, Nimura A, Sato N, Horikawa R, Tanae A, Tanaka T

Abstract excerpt

It has been reported that mutations in the FGFR3 gene cause autosomal dominant forms of dwarfism, achondroplasia (ACH) and hypochondroplasia (HCH). In the present study, we analyzed the FGFR3 gene in 26 Japanese patients with ACH and 14 with HCH. Genomic DNAs of the patients were isolated from wh...

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Source

Identifiers

PMID: 10890199
DOI: 10.1507/endocrj.47.supplmarch_s121

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-10890199-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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