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Article

HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg.

American journal of medical genetics - 15 Jun 2002

Kjaer Klaus Wilbrandt, Hedeboe Jess, Bugge Merete, Hansen Claus, Friis-Henriksen Karen, Vestergaard Maria Baeksted, Tommerup Niels, Opitz John M

Abstract excerpt

In 1927, Oluf Thomsen, in a classic paper, described a seven-generation family with autosomal dominant axial synpolydactyly (SPD)--the Vordingborgtyp of axis duplication and dysostosis. Expansion of a polyalanine tract in the HOXD13 gene is known to cause synpolydactyly. We have rediscovered part of the family described by Thomsen, and detected a 9 triplet polyalanine expansion within HOXD13segregating with the...

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Identifiers

PMID: 12116248
DOI: 10.1002/ajmg.10397

Genes

HOXD13

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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