Zhao-type Brachydactyly is an autosomal dominant brachydactyly-syndactyly-oligodactyly syndrome caused by mutations of the HOXD13. It is characterized by metaphalangeal shortage of digits 2 and 5 while digits 3 and 4 often show syndactyly. Patients may exhibit a short stature and some other skeletal abnormalities.
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Zhao X et al. (2007) Mutations in HOXD13 underlie syndactyly type V and a novel brachydactyly-syndactyly syndrome. |
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Ibrahim DM et al. (2013) Distinct global shifts in genomic binding profiles of limb malformation-associated HOXD13 mutations. |
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OMIM.ORG article Omim 610713 |