鳃裂-耳-肾综合征
王轶;王直中;曹克利
1:北京协和医院耳鼻咽喉科!北京100730
2:北京协和医院耳鼻咽喉科!北京100730
3:北京协和医院耳鼻咽喉科!北京100730
摘要关键词基金项目(Foundation):作者参考文献1 FraserFC ,SprouleJR ,HalalF .Frequencyofthebranchio -oto-renal(BOR)syndromeinchildrenwithprofoundhearingloss[J] .AmJMedGenet,1980 ,7:341.
2 ChenA ,FrancisM ,NiL ,etal.Phenotypicmanifestationsofbranchiootorenalsyndrome[J] .AmJMedGenet,1995 ,5 8:36 5 .
3 GimsingS ,DyrmoseJ .Branchio-oto -renaldysplasiainthreefamilies[J] .AnnOtolRhinolLaryngol.1986 ,95 :42 1.
4 CremersCWRJ ,Fikkers -vonNoordM .Theearpitdeafnesssyndrome :clinicalandgeneticaspects[J] IntJPediatrOtorhinolaryngol,1980 ,2 :30 9.
5 CoteA ,O’ReganS .Thebranchio -oto -renalsyndrome[J] .AmJNephrol,1982 ,2 :14 4 .
6 VanWiddershovenJ,MonneusL ,AssmannK ,etal.Renaldisordersinthebranchio -oto-renalsyndrome[J] .HelvPaediatrActa ,1983,38:5 13.
7 FraserFC ,AymeS ,HalalF ,elal.Autosomaldominantduplicationoftherenalcollectingsystem ,hearinglossandexternalearanomalies:anewsyndrome[J] ?AmJMedGenet,1983,14 :473.
8 HeimlerA ,LieberE .Branchio -oto -renalsyndrome:reducedpene tranceandvariableexpressivityinfourgenerationsofalargekindred[J] .AmJMedGenet,1986 ,2 5 :15 .
9 NiL ,WagerMJ,KimberlingWJ,etal.Refinedlocalizationofthebran chiootorenalgenebylinkageandhaplotypeanalysis[J] .AmJMedGenet,1994,5 1:176 .
10 HannEA ,HullYJ ,WhiteS ,etal.Tricho -Rhino -PhalangealandBranchio -otosyndromesinafamilywithaninheritedrearrangementofchromosome 8q[J] .AmJMedGenet,1989,32 :490 .
11 SmithRJH ,CoppageKB ,AnkerstjerneJKB ,etal.Localizationofthegeneforbranchiootorenalsyndrometochromosome 8q[J] .Genomics ,1992 ,14 :841.
12 KumarS ,KimbelingWJ,KenyonJB ,etal.Autosomaldominantbran chio -oto-renalsyndrome-localizationofadiseasegenetochromo some 8qbylinkageinaDutchfamily[J] .HumMolGenet,1992 ,1:491.
13 AbdelhakS ,KalatzisV ,HeiligR ,etal.AHumanhomologueoftheDrosophilaeyesabsentgeneunderliesBranchio -Oto -Renal(BOR)syndromeandidentifiesanovelgenefamily[J] .NatGenet,1997,15 :15 7.
14 MillmanB ,GibsonWS ,FosterWP .Branchio -oto -renalsyndrome[J] .ArchOtolaryngolHeadNeckSurg ,1995 ,12 1:92 2 .
15 GuptaA ,PattonMA .Familialmicrotiawithmeatalatresiaandconduc tivedeafnessinfivegenerations[J] .AmJMedGenet,1995 ,5 9:2 38.
16 MarresHAM ,CremersCWRJ .Commissurallippits ,preauricularsinus,externalearanomalyandconductiveormixeddeafness .Anewauto somaldominantsyndrome[J] .AnnOtoRhinolLaryngol,1991,10 0 :92 8.
17 SlackRWT ,PhelpsPD .Familialmixeddeafnesswithbranchialarchdefects(earpits-deafnesssyndrome) [J] .ClinOtolaryngol,1985 ,10 :2 71.
18 CremersCWRJ,MarresHAM ,BrunnerHG .Neo -ovalwindowtech niqueandmyringo-chorda-vestibulopexyintheBORsyndrome[J] .Laryngoscope ,1993,10 3 :1186 .