HOXDs
Pathology of HOXDs
fused in the HOXD13-NUP98 fusion gene in acute myeloid leukemia
germline mutations (polyalanine repeat expansion) in
- synpolydactyly (MIM.186000) with or without foot anomaly (hand/foot malformation with syndactyly and polydactyly, brachydactyly, hypodactyly)
- synpolydactyly type Vordingborg (12116248)
- brachydactyly types D (MIM.113200) and E (MIM.113300) (12649808)
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