Pathology
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)
-
brachydactyly types D (MIM.113200) and E (MIM.113300) (#12649808#)
See also
polyalanine repeat expansions
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