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Article

A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.

Journal of clinical pathology - 1 Sept 2012

Alvarez-Mora María Isabel, Madrigal Irene, Rodriguez-Revenga Laia, Mur Antonio, Calvo Dolors, Pascual I Bardají Josep, Milà Montserrat

Abstract excerpt

Idiopathic short stature is a multifactorial disease caused by defects in several genes. Among them, short stature homeobox-containing gene (SHOX) mutations have an incidence of 2%-15% within the idiopathic short population. The authors report a patient with moderate intellectual disability, short stature and no other radiological traits referred for subtelomeric screening. MLPA and sequencing results showed a...

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Source

Identifiers

PMID: 22461651
DOI: 10.1136/jclinpath-2011-200626

Genes

SHOX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A170P mutation in SHOX gene in a patient not presenting with Madelung deformity.PMID 22461651Read ↗

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

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

Identification of a Gypsy SHOX mutation (p.A170P) in Léri-Weill dyschondrosteosis and Langer mesomelic dysplasia.Semantic proximity Read ↗

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

Genotypes and phenotypes in children with short stature: clinical indicators of SHOX haploinsufficiency.Semantic proximity Read ↗

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

The human SHOX mutation database.Semantic proximity Read ↗

Short stature and dysmorphology associated with defects in the SHOX gene.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 ↗

Clinical impact of variants in non-coding regions of SHOX - Current knowledge.Semantic proximity Read ↗

SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: frequency and phenotypic variability.Semantic proximity Read ↗

Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.Semantic proximity Read ↗

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