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Article

Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.

Journal of clinical research in pediatric endocrinology - 1 Dec 2012

Korkmaz Hüseyin Anıl, Hazan Filiz, Dizdarer Ceyhun, Tükün Ajlan

Abstract excerpt

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar to but milder than achondroplasia (ACP). Fibroblast growth factor receptor 3 gene (FGFR3) mutations in the germline are well-known causes of skeletal syndromes. FGFR3 is a negative regulator of bone growth and all mutations in FGFR3 are...

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Share to Amino Acid Substitution
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Dwarfism

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Share to Limb Deformities, Congenital

Share to Receptor, Fibroblast Growth Factor, Type 3

Source

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Identifiers

PMID: 23149434
DOI: 10.4274/jcrpe.787
PMCID: PMC3537291

Genes

FGFR3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Hypochondroplasia in a child with 1620C>G (Asn540Lys) mutation in FGFR3.PMID 23149434Read ↗

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