词条 | Albinism–deafness syndrome |
释义 |
| name = Albinism–deafness syndrome | synonyms = | image = X-linked recessive.svg | caption = Albinism–deafness syndrome is inherited in an X-linked recessive manner | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}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
References1. ^{{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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