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Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination Hotspots

5 Jul 2006

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PMID: 16826534
DOI: 10.1086/506390

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Related research

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Click a neighbor to travelStep 1 · 12 closest

Characterization of SHOX Deletions in Léri-Weill Dyschondrosteosis (LWD) Reveals Genetic Heterogeneity and No Recombination HotspotsPMID 16826534Read ↗

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

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome).Semantic proximity Read ↗

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

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

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

Clinical and molecular characterization of Chilean patients with Léri-Weill dyschondrosteosis.Semantic proximity Read ↗

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

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

Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis.Semantic proximity Read ↗

A Deletion of More than 800 kb Is the Most Recurrent Mutation in Chilean Patients with SHOX Gene Defects.Semantic proximity Read ↗

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