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Article

Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

8 Jul 1997

Abstract excerpt

Synpolydactyly (SPD) is a dominantly inherited congenital limb malformation. Typical cases have 3/4 finger and 4/5 toe syndactyly, with a duplicated digit in the syndactylous web, but incomplete penetrance and variable expressivity are common. The condition has recently been shown to be caused by expansions of an imperfect trinucleotide repeat sequence encoding a 15-residue polyalanine tract in HOXD13. We have...

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PMID: 9207113
DOI: 10.1073/pnas.94.14.7458

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Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tractPMID 9207113Read ↗

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

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

Synpolydactyly and HOXD13 polyalanine repeat: addition of 2 alanine residues is without clinical consequences.Semantic proximity Read ↗

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

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HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.Semantic proximity Read ↗

Fork stalling and template switching as a mechanism for polyalanine tract expansion affecting the DYC mutant of HOXD13, a new murine model of synpolydactyly.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 ↗

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