OFD1

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Names in other languages

  • DeutschOFD1
  • EnglishOFD1
  • EspañolOFD1
  • FrançaisOFD1
  • ItalianoOFD1
  • NederlandsOFD1
  • PortuguêsOFD1
  • srnOFD1

Article bodies are English and are not machine-translated. A name in another language is not a translation of the article.

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (MIM 300377). This region harbors several disease loci, including OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066), and SEDT (MIM 313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.[supplied by OMIM]

Oral-facial-digital syndrome 1 protein is a protein that in humans is encoded by the OFD1 gene. Human chromosomal region Xp22.3-p21.3 comprises the area between the pseudoautosomal boundary and the Duchenne muscular dystrophy gene (MIM 300377). This region harbors several disease loci, including OFD1 (MIM 311200), CFNS (MIM 304110), DFN6 (MIM 300066), and SEDT (MIM 313400). It also contains a region of homology with both the short and the long arms of the Y chromosome and undergoes frequent chromosomal rearrangements.[supplied by OMIM]

See also

Orofaciodigital syndrome 1 Simpson–Golabi–Behmel syndrome

References

External links

GeneReviews/NCBI/NIH/UW entry on Oral-Facial-Digital Syndrome Type I

Further reading

Text derived from https://en.wikipedia.org/w/index.php?oldid=1301329153 under CC BY-SA 4.0; modifications have been made.

Provenance

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Sources cited in this revision

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