Waardenburg综合征Ⅱ型1例(英文)

Waardenburg syndrome Ⅱ in China: a case report

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摘要 Waardenburg综合征(WS)是一种罕见的常染色体显性遗传病,其主要临床特点包括色素分布异常以及先天性耳聋。WS共分为四型,临床上需同其他疾病仔细鉴别。 Waardenburg syndrome （WS） is an uncommon autosomally inherited and genetically heterogeneous disorder. The major features includes pigmentary disturbances and congenital deafness. Four subtypes of WS are recognized according to the clinical finding.A careful clinical description is needed to differentiate different types of WS and other associated diseases. 

作者张成成张立叶应嘉王静孙代红

机构地区汉口爱尔眼科医院

出处《国际眼科杂志》 CAS 2012年第9期1623-1625,共3页 International Eye Science

关键词 WAARDENBURG综合征虹膜异色耳聋 Waardenburg syndrome heterochromia iris deafness

分类号 R771.3 [医药卫生—眼科]

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Waardenburg综合征Ⅱ型1例(英文)

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