Rapp–Hodgkin syndrome
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|image = Autosomal dominant - en.svg
|caption = This condition is inherited in an autosomal dominant manner.
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|specialty = Medical genetics
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Rapp–Hodgkin syndrome was formerly thought to be a unique autosomal dominant disorder due to a P63 gene mutation. However, it was recently shown to the same disease as Hay–Wells syndrome.{{cite journal |vauthors=Clements SE, Techanukul T, Holden ST, etal |title=Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder |journal=Br. J. Dermatol. |volume=163 |issue=3 |pages=624–9 |date=September 2010 |pmid=20491771 |doi=10.1111/j.1365-2133.2010.09859.x |s2cid=44866051 }}
It was first characterized in 1968.{{cite journal |vauthors=Rapp RS, Hodgkin WE |title=Anhidrotic ectodermal dysplasia: autosomal dominant inheritance with palate and lip anomalies |journal=J. Med. Genet. |volume=5 |issue=4 |pages=269–72 |date=December 1968 |pmid=5713637 |pmc=1468665 |url=|doi=10.1136/jmg.5.4.269}}
See also
References
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Further reading
- [https://www.ncbi.nlm.nih.gov/books/NBK43797/ GeneReviews/NCBI/NIH/UW entry on Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome or AEC Syndrome, Hay–Wells Syndrome. Includes: Rapp–Hodgkin Syndrome]
External links
{{Medical resources
| OMIM = 129400
| Orphanet = 3022
}}
- [https://www.ncbi.nlm.nih.gov/omim/106260,603273,106260,603273 OMIM entries on AEC]
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