Albinism–deafness syndrome

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Albinism–deafness syndrome
X-linked recessive.svg
Albinism–deafness syndrome is inherited in an X-linked recessive manner

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[edit]

References[edit]

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 928. ISBN 1-4160-2999-0. 
  2. ^ 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 1683749Freely accessible. PMID 2349949. 
  3. ^ 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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Classification
External resources