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Autor:
Claus Hansen, Karen Friis-Henriksen, Klaus W. Kjaer, John M. Opitz, Merete Bugge, Jess Hedeboe, Maria Baeksted Vestergaard, Niels Tommerup
Publikováno v:
American journal of medical genetics. 110(2)
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