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Article

Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated families

1 Jul 1996

Abstract excerpt

Synpolydactyly (SPD) is a limb malformation that shows a characteristic manifestation in both hands and feet. This condition is inherited as an autosomal dominant trait with reduced penetrance. We have recently mapped this locus centromeric to the HOXD8 intragenic marker and suggested the HOXD13 gene as a potential candidate for this condition. The genomic structure of HOXD13 established in this study consists of...

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PMID: 8817328
DOI: 10.1093/hmg/5.7.945

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Genomic structure of HOXD13 gene: a nine polyalanine duplication causes synpolydactyly in two unrelated familiesPMID 8817328Read ↗

Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.Semantic proximity Read ↗

Mutation analysis of HOXD13 gene in a Chinese pedigree with synpolydactyly.Semantic proximity Read ↗

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractSemantic proximity Read ↗

A heterozygous duplication variant of the HOXD13 gene caused synpolydactyly type 1 with variable expressivity in a Chinese family.Semantic proximity Read ↗

A new spontaneous mouse mutation of Hoxd13 with a polyalanine expansion and phenotype similar to human synpolydactyly.Semantic proximity Read ↗

[HOXD13 polyalanine tract expansion in synpolydactyly: mutation detection and prenatal diagnosis in a large Chinese family].Semantic proximity Read ↗

The mouse Hoxd13(spdh) mutation, a polyalanine expansion similar to human type II synpolydactyly (SPD), disrupts the function but not the expression of other Hoxd genes.Semantic proximity Read ↗

HOXD13-associated synpolydactyly: Extending and validating the genotypic and phenotypic spectrum with 38 new and 49 published families.Semantic proximity Read ↗

Deletions in HOXD13 segregate with an identical, novel foot malformation in two unrelated families.Semantic proximity Read ↗

Altered growth and branching patterns in synpolydactyly caused by mutations in HOXD13.Semantic proximity Read ↗

A novel non-synonymous mutation in the homeodomain of HOXD13 causes synpolydactyly in a Chinese family.Semantic proximity Read ↗

[Mutation analysis of HOXD13 gene in a Chinese family affected with autosomal dominant synpolydactyly].Semantic proximity Read ↗

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