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Medical condition
Synpolydactyly is a joint presentation of syndactyly (fusion of digits) and polydactyly (production of supernumerary digits). This is often a result of a mutation in the HOX D13 gene.[1]
Types
OMIM | Name | Gene |
---|---|---|
186000 | SPD1 | HOXD13 |
608180 | SPD2 | FBLN1 |
610234 | SPD3 | ? at 14q11.2-q12 |
References
- ^ Malik S, Grzeschik KH (February 2008). "Synpolydactyly: clinical and molecular advances". Clin. Genet. 73 (2): 113–20. doi:10.1111/j.1399-0004.2007.00935.x. PMID 18177473. S2CID 36196199.
External links
Classification |
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Appendicular limb / dysmelia |
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Axial |
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Genetic disorders relating to deficiencies of transcription factor or coregulators | |||||||||
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(1) Basic domains |
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(2) Zinc finger DNA-binding domains |
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(3) Helix-turn-helix domains |
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(4) β-Scaffold factors with minor groove contacts |
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(0) Other transcription factors |
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Ungrouped | |||||||||
Transcription coregulators |
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