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词条 Albinism–deafness syndrome
释义

  1. See also

  2. References

  3. External links

{{Infobox medical condition (new)
| name = Albinism–deafness syndrome
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| caption = Albinism–deafness syndrome is inherited in an X-linked recessive manner
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}}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

  • Albinism

References

1. ^{{cite book |author =Rapini, Ronald P. |author2 =Bolognia, Jean L. |author3 =Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages=928 |isbn=1-4160-2999-0 |oclc= |doi= |accessdate=}}
2. ^{{cite journal |vauthors =Shiloh Y, Litvak G, Ziv Y |title=Genetic mapping of X-linked albinism-deafness syndrome (ADFN) to Xq26.3-q27.I |journal=Am. J. Hum. Genet. |volume=47 |issue=1 |pages=20–7 |date=July 1990 |pmid=2349949 |pmc=1683749 |doi= |url=|display-authors=etal}}
3. ^{{cite journal |author =Zlotogora J |title=X-linked albinism-deafness syndrome and Waardenburg syndrome type II: a hypothesis |journal=Am. J. Med. Genet. |volume=59 |issue=3 |pages=386–7 |date=November 1995 |pmid=8599367 |doi=10.1002/ajmg.1320590321 |url=}}

External links

{{Medical resources
| DiseasesDB =
| ICD10 = H90.5
| ICD9 =
| ICDO =
| OMIM = 300700
| MedlinePlus =
| eMedicineSubj =
| eMedicineTopic =
| MeshID = C537042
| Orphanet = 998
}}{{Pigmentation disorders}}{{DEFAULTSORT:Albinism-deafness syndrome}}{{Cutaneous-condition-stub}}

5 : Albinism|Disturbances of human pigmentation|Syndromes affecting the skin|Syndromes with sensorineural hearing loss|Genetic syndromes

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