Synpolydactyly

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Synpolydactyly
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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]

Contents

Types

OMIM NameGene
186000 SPD1 HOXD13
608180 SPD2 FBLN1
610234 SPD3 ? at 14q11.2-q12

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<span class="mw-page-title-main">HOXD13</span> Protein

Homeobox protein Hox-D13 is a protein that in humans is encoded by the HOXD13 gene. This gene belongs to the homeobox family of genes. The homeobox genes encode a highly conserved family of transcription factors that play an important role in morphogenesis in all multicellular organisms.

<span class="mw-page-title-main">RASSF8</span> Protein-coding gene in the species Homo sapiens

Ras association domain-containing protein 8 is a protein that in humans is encoded by the RASSF8 gene.

References

  1. 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.