From Wikipedia, the free encyclopedia
ABCD syndrome is the acronym for albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness. It has been found to be caused by mutation in the endothelin B receptor gene (EDNRB).
[edit] See also
- Waardenburg-Shah syndrome
[edit] References
- Gross A, Kunze J, Maier RF, Stoltenburg-Didinger G, Grimmer I, Obladen M (1995). "Autosomal-recessive neural crest syndrome with albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness: ABCD syndrome". Am J Med Genet 56 (3): 322-6. PMID 7778600
- Verheij JB, Kunze J, Osinga J, van Essen AJ, Hofstra RM (2002). "ABCD syndrome is caused by a homozygous mutation in the EDNRB gene". Am J Med Genet 108 (3): 223-5. PMID 11891690
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