Medicine:Albinism–deafness syndrome
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| Albinism–deafness syndrome | |
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| Other names | Woolf syndrome and Ziprkowski–Margolis syndrome |
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| Albinism–deafness syndrome is inherited in an X-linked recessive manner | |
Albinism–deafness 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
- Albinism
References
- ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. pp. 928. ISBN 978-1-4160-2999-1.
- ↑ "Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I". Am. J. Hum. Genet. 47 (1): 20–7. July 1990. PMID 2349949.
- ↑ 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.
External links
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