Waardenburg综合征一例眼部表现_Chinese Journal of Ocular Fundus Diseases

Authors：

付燕 ,  顾朝辉 , 石笑楠

071000 河北省保定市第一中心医院眼二科;

Corresponding author：

顾朝辉, Email: zhaohui-gu@sohu.com

Keywords：

Waardenburg综合征; 屈光不正; 弱视; 外斜视; 病例报告

DOI：

10.3760/cma.j.issn.1005-1015.2018.01.021

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Citation： 付燕, 顾朝辉, 石笑楠. Waardenburg综合征一例眼部表现. Chinese Journal of Ocular Fundus Diseases, 2018, 34(1): 75-76. doi: 10.3760/cma.j.issn.1005-1015.2018.01.021 Copy

1.	Read AP, Newton VE. Waardenburg syndrome[J]. J Med Genet, 1997, 34(8): 656-665.
2.	Pardono E, van Bever Y, van den Ende J, et al. Waardenburg syndrome: clinical differentiation between types Ⅰ and Ⅱ[J]. Am J Med Genet A, 2003, 117A(3): 223-235.
3.	Delleman JW, Hageman MJ.Ophthalmological findings in 34 patients with Waardenburg syndrome[J]. J Paediatr Ophthalmol Strab, 1978, 15(6): 341-345.
4.	Chen H, Jiang L, Xie Z, et al. Novel mutations of PAX3, MITF, and SOX10 genes in Chinese patients with type Ⅰ or type Ⅱ Waardenburg syndrome[J]. Biochem Biophys Res Commun, 2010, 397(1): 70-74. DOI: 10.1016/j.bbrc.2010.05.066.

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Waardenburg综合征一例眼部表现

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