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Article

New proposed clinico-radiologic and molecular criteria in hypochondroplasia: FGFR 3 gene mutations are not the only cause of hypochondroplasia.

American journal of medical genetics. Part A - 1 Oct 2012

Song Sang-Heon, Balce Gracia Cielo Estrera, Agashe Mandar Vikas, Lee Hanna, Hong Suk-Joo, Park Young-Eun, Kim Sang-Gyun, Song Hae-Ryong

Abstract excerpt

We applied a comprehensive set of clinical and radiological criteria for the diagnosis of hypochondroplasia (HCH) in 160 patients with short stature 58 of whom were diagnosed to have HCH. Taking into account the genotypic and phenotypic variations in HCH, we conducted a study with these 58 patients and tested them for mutations in the fibroblast growth factor receptor 3 (FGFR3) and the short stature homeobox...

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Share to Homeodomain Proteins

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Share to Receptor, Fibroblast Growth Factor, Type 3

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Source

Identifiers

PMID: 22903874
DOI: 10.1002/ajmg.a.35564

Genes

FGFR3
SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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