Waardenburg综合征的遗传学分析
Genetic Analysis of Waardenburg Syndrome
王秋菊;侯军华;张立文;曹菊阳;郗昕;马志中;杨贵舫;张素珍;顾瑞;杨伟炎
1:解放军总医院耳鼻咽喉科所
2:解放军总医院耳鼻咽喉科所
3:解放军总医院临床检验科
4:解放军总医院耳鼻咽喉科所





1 WaardenburgPJ .Anewsyndromecombiningdebelopmenalanomaliesoftheeyelids,eyebrowsandnoserootwithpigmentarydefectsofirisandheadhairwithcongenitaldeafness[J].AmJHumGenet,1951,3:195.
2 WinshipI,BeightonP .PhenotypicdiscriminantsintheWaardenburgsyndrome[J].ClinGenet,1992,41:181.
3 李建国,王文双.Waardenburg综合征一家五例[J].中华医学遗传学杂志,1994,11:129.
4 富杰,陈德忠.Waardenburg综合征一个家系调查[J].中华儿科杂志,1995,33:297.
5 王轶,赵翠霞,曹克利,等.Waardenburg综合征(附1例报告),听力学及言语疾病杂志,1997,5:69.
6 王培林,主编.遗传病学[M].北京:人民卫生出版社,2000.188~197.
7 FarrerLA ,GrundfastKM ,AmosJ ,etal.WaardenburgSyndrome(WS)typeIiscausedbydefectsatmultipleloci,oneofwhichisnearALPPonChromosome2:firstreportoftheWSconsortium[J].AmJHumGenet,1992,50:902.
8 TassabehjiM ,NewtonVE ,LiuXZ ,etal.ThemutationalspectruminWaardenburysyndrome[J].HumMoleGenet,1995,4:2131.
9 BondurandN ,PingaultV ,GoerichDE ,etal.InteractionamongSOX10,PAX3andMITF ,threegenesalteredinWaardenburgsyndrome[J].HumMolecGenet,2000,9:1907.
10 LalwaniAK ,AttaleA ,RandolphFT ,etal.PointmutationintheMITFgenecausingWaardenbruysyndrometypeⅡinathree-generationIndianfamily[J].AmJMedGenet,1998,80:406.