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Article

Unexpected phenotype in a boy with trisomy of the SHOX gene.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Iughetti Lorenzo, Capone Lucia, Elsedfy Heba, Bertorelli Roberto, Predieri Barbara, Bruzzi Patrizia, Forabosco Antonino, El Kholy Mohamed

Abstract excerpt

The assessment that heterozygous SHOX mutations leading to SHOX haploinsufficiency play a role in patients with idiopathic short stature (ISS) is already documented in the literature as well as the suggestion that additional copies of SHOX are strongly implicated in a condition of tall stature. However, we report the first case of short stature in a male associated with the presence of three copies of the SHOX...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20432819
DOI: 10.1515/jpem.2010.23.1-2.159

Genes

SHOX

Variants

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.

Related research

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Unexpected phenotype in a boy with trisomy of the SHOX gene.PMID 20432819Read ↗

Short stature due to SHOX deficiency: genotype, phenotype, and therapy.Semantic proximity Read ↗

SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

Clinical and molecular characterization of duplications encompassing the human SHOX gene reveal a variable effect on stature.Semantic proximity Read ↗

Different approaches in the molecular analysis of the SHOX gene dysfunctions.Semantic proximity Read ↗

Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.Semantic proximity Read ↗

The SHOX region and its mutations.Semantic proximity Read ↗

Novel heterozygous mutation in the SHOX gene leading to familial idiopathic short stature: A case report and literature review.Semantic proximity Read ↗

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

High incidence of SHOX anomalies in individuals with short stature.Semantic proximity Read ↗

Identification of a major recombination hotspot in patients with short stature and SHOX deficiency.Semantic proximity Read ↗

Detection of SHOX Gene Variations in Patients with Skeletal Abnormalities with or without Short StatureSemantic proximity Read ↗

SHOX: pseudoautosomal homeobox containing gene for short stature and dyschondrosteosis.Semantic proximity Read ↗

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