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Article

Homozygous N540K hypochondroplasia--first report: radiological and clinical features.

American journal of medical genetics. Part A - 1 Jul 2014

De Rosa M Laura Garcia, Fano Virginia, Araoz H Verónica, Chertkoff Lilien, Obregon M Gabriela

Abstract excerpt

We describe a 16-month-old male with N540K homozygous mutation in the FGFR3 gene who showed a more severe phenotype than hypochondroplasia (HCH). To our knowledge, a homozygous state for this mutation causing HCH has not been reported before. The clinical and radiological characteristics of our patient represent an intermediate condition between achondroplasia and achondroplasia/hypochondroplasia compound...

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Source

Identifiers

PMID: 24715719
DOI: 10.1002/ajmg.a.36504

Genes

FGFR3

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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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