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Article

Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.

Human genetics - 1 Aug 2000

Grigelioniene G, Eklöf O, Ivarsson S A, Westphal O, Neumeyer L, Kedra D, Dumanski J, Hagenäs L

Abstract excerpt

Dyschondrosteosis (DCO) and hypochondroplasia (HCH) are common skeletal dysplasias characterized by disproportionate short stature. The diagnosis of these conditions might be difficult to establish especially in early childhood. Point mutations and deletions of the short stature homeobox containing gene (SHOX) are detected in DCO and idiopathic short stature with some rhizomelic body disproportion, whereas...

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Source

Identifiers

PMID: 11030412
DOI: 10.1007/s004390000352

Genes

SHOX
FGFR3

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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Mutations in short stature homeobox containing gene (SHOX) in dyschondrosteosis but not in hypochondroplasia.PMID 11030412Read ↗

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The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome.Semantic proximity Read ↗

Analysis of short stature homeobox-containing gene ( SHOX) and auxological phenotype in dyschondrosteosis and isolated Madelung deformity.Semantic proximity Read ↗

Clinical and genetic spectrum of SHOX deficiency: phenotypic heterogeneity and the "Jumping SHOX" phenomenon.Semantic proximity Read ↗

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

SHOX mutation as a rare disease: molecular diagnosis and growth hormone treatment supported by the Italian public health system.Semantic proximity Read ↗

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SHOX at a glance: from gene to protein.Semantic proximity Read ↗

A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.Semantic proximity Read ↗

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