Home > F. Pathology by regions > Limbs > synpolydactyly type Vordingborg
synpolydactyly type Vordingborg
Wednesday 12 September 2007
Definition: axis duplication and dysostosis.
Etiology
germline mutations (polyalanine repeat expansion) in HOXD13
See also
polyalanine repeat expansions
References
Kjaer KW, Hedeboe J, Bugge M, Hansen C, Friis-Henriksen K, Vestergaard MB, Tommerup N, Opitz JM. HOXD13 polyalanine tract expansion in classical synpolydactyly type Vordingborg. Am J Med Genet. 2002 Jun 15;110(2):116-21. PMID: 12116248
