ABCD syndrome
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2008-05-28T11:30:37Z
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'''ABCD syndrome''' is the [[acronym]] for [[albinism]], black lock, cell migration disorder of the [[neurocyte]]s of the gut and sensorineural deafness. It has been found to be caused by mutation in the [[endothelin B receptor gene]] (EDNRB).
== See also ==
* [[Waardenburg-Shah syndrome]]
== References ==
* {{cite journal | author=Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M | title=Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome | journal=Am J Med Genet | year=1995 | pages=322–6 | volume=56 | issue=3 | doi=10.1002/ajmg.1320560322 }} PMID 7778600
* {{cite journal | author=Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM | title=ABCD syndrome is caused by a homozygous mutation in the EDNRB gene | journal=Am J Med Genet | year=2002 | pages=223–5 | volume=108 | issue=3 | doi=10.1002/ajmg.10172 }} PMID 11891690
== External links ==
* {{RareDiseases|335}}
* [http://www.genecards.org/cgi-bin/carddisp?gene=EDNRB GeneCard for EDNRB]
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[[Category:Rare diseases]]