Waardenburg综合征(附1例报告)
Waardenburg Syndrome
王轶;赵翠霞;曹克利;王直中
1:北京协和医院耳鼻咽喉科
摘要关键词基金项目(Foundation):作者参考文献1WaardenburgP．Anewsyndromecombiningdevelop－mentanomaliesoftheeyelids，eyebrowsandnoserootwithcongenitaldeafness．AmJHumGenet，1951，3：195．2HegemanM，DelemanJ．HeterogeneityinWaarden－burgsyndrome．AmJHumGenet，1977，29：468．3BeightonP，RamesarR，WinshipI，etal．Hearingim－pairmentandpigmentarydisturbance．AnnNYAcadSci，1991，630：152．4WinshipI，BeightonP．PhenotypicdiscriminantsintheWaardenburgsyndrome．ClinGenet，1992，41：181．5HagemanMJ．Audiometricfindingsin34patientswithWaardenburgsyndrome．JLaryngolOtol，1977，9：375．6FarerLA，AmosKA，AsherJH，etal．LocusHetero－geneityforWaardenburgSyndrometype2mapsclosetothehumanhomologueofthemicrophthalmiageneatchromosome3p12～p14．1．NatureGenet，1994，7：509．7HothCF，MilunskyA，LipskyN，etal．MutationsinthepaireddomainofthehumanPAX3genecauseKlein－Waardenburgsyndrome（WS－3）aswelasWaardenburgsyndrometype1．AmJHumGenet，1993，52：455．8TasabehjiM，NewtonVE，ReadAP．WaardenburgSyndrometype2causedbymutationsinthehumanmicrophthalmia（MITF）gene，NatureGenet，1994，8：251．9CampGV．Chromosome13qdeletionwithWaarden－burgsyndrome：furtherevidenceforageneinvolvedinneuralcrestfunctionon13q．JMedGenet，1995，32：531．10HidesheimerM，MaayanZ，MuchnikC，etal．Audi－toryandvestibularfindingsinWaardenburg＇stype2syndrome．JLaryngolOtolDec，1989，103：1130