ABCD syndrome
From Wikipedia, the free encyclopedia
| ABCD syndrome Classification and external resources |
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| OMIM | 600501 |
|---|---|
| DiseasesDB | 33683 |
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
[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. doi:. 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. doi:. PMID 11891690
[edit] External links
- Disease ID 335 at NIH's Office of Rare Diseases
- GeneCard for EDNRB
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