ABCD syndrome
This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "ABCD_syndrome".

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).

See also

• Waardenburg-Shah syndrome

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:10.1002/ajmg.1320560322.  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:10.1002/ajmg.10172.  PMID 11891690

External links

• Disease ID 335 at NIH's Office of Rare Diseases
• GeneCard for EDNRB

This genetic disorder article is a stub. You can help Wikipedia by expanding it.