From Wikipedia, the free encyclopedia
Albinism–deafness syndrome
Other namesWoolf syndrome and Ziprkowski–Margolis syndrome
Albinism–deafness syndrome is inherited in an X-linked recessive manner
Specialty Dermatology

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

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 928. ISBN  978-1-4160-2999-1.
  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  1683749. 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.

External links

From Wikipedia, the free encyclopedia
Albinism–deafness syndrome
Other namesWoolf syndrome and Ziprkowski–Margolis syndrome
Albinism–deafness syndrome is inherited in an X-linked recessive manner
Specialty Dermatology

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

References

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 928. ISBN  978-1-4160-2999-1.
  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  1683749. 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.

External links


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