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Article

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2013

Rodríguez Fernando Adrián, Unanue Nancy, Hernandez María Isabel, Basaure Javiera, Heath Karen Elise, Cassorla Fernando

Abstract excerpt

AIM: Léri-Weill dyschondrosteosis (LWD) is a mesomelic dysplasia with disproportionate short stature associated with short stature homeobox-containing gene (SHOX) haploinsufficiency. The objective of this study was to improve the diagnosis of patients with suspected LWD through molecular analysis. METHODS: Twelve patients from 11 families with a clinical diagnosis of LWD were analyzed with multiplex...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23729538
DOI: 10.1515/jpem-2013-0023

Genes

SHOX

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.PMID 23729538Read ↗

PAR1 deletions downstream of SHOX are the most frequent defect in a Spanish cohort of Léri-Weill dyschondrosteosis (LWD) probands.Semantic proximity Read ↗

Identification of the first de novo PAR1 deletion downstream of SHOX in an individual diagnosed with Léri-Weill dyschondrosteosis (LWD).Semantic proximity Read ↗

Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.Semantic proximity Read ↗

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

Phenotypic variation and genetic heterogeneity in Léri-Weill syndrome.Semantic proximity Read ↗

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

[Leri-Weill dyschondrosteosis. A variable expression SHOX gene mutation].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 ↗

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

Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.Semantic proximity Read ↗

SHOX haploinsufficiency and Leri-Weill dyschondrosteosis: prevalence and growth failure in relation to mutation, sex, and degree of wrist deformity.Semantic proximity Read ↗

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

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