Albinism–deafness syndrome
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Albinism–deafness syndrome
| Albinism–deafness syndrome | |
|---|---|
| Classification and external resources | |
| OMIM | 300700 |
Albinism–deafness syndrome (also known as "Woolf syndrome," and "Ziprkowski–Margolis syndrome") is a condition characterized by congenital neural deafness and a severe or extreme piebald-like phenotype with extensive areas of hypopigmentation.[1]
A locus at Xq26.3-q27.I has been suggested.[2]
It has been suggested that it is a form of Waardenburg syndrome type II.[3]
See also
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 928. ISBN 1-4160-2999-0.
- ^ Shiloh Y, Litvak G, Ziv Y, et al. (July 1990). "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20–7. PMC 1683749. PMID 2349949. http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1683749.
- ^ Zlotogora J (November 1995). "X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis". Am. J. Med. Genet. 59 (3): 386–7. doi:10.1002/ajmg.1320590321. PMID 8599367.
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