ABCD syndrome 3062597 215479051 2008-05-28T11:30:37Z DOI bot 6652755 Citation maintenance. You can [[WP:DOI|use this bot]] yourself! Please [[User:DOI_bot/bugs|report any bugs]]. {{Infobox_Disease | Name = {{PAGENAME}} | Image = | Caption = | DiseasesDB = 33683| ICD10 = | ICD9 = | ICDO = | OMIM = 600501| MedlinePlus = | eMedicineSubj = | eMedicineTopic = | }} '''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] {{genetic-disorder-stub}} [[Category:Rare diseases]]