X-LINKED MEGALOCORNEA - OCULAR FINDINGS AND LINKAGE ANALYSIS

被引：14

作者：

MEIRE, FM

BLEEKERWAGEMAKERS, EM

OEHLER, M

GAL, A

DELLEMAN, JW

机构：

[1] University Clinic, Department of Ophthalmology, Ghent

[2] The Netherlands Ophthalmic Research Institute, Amsterdam

[3] Institut für Humangenetik, Medizinische Universitdt, Lubeck

来源：

OPHTHALMIC PAEDIATRICS AND GENETICS | 1991年 / 12卷 / 03期

关键词：

CORNEA GLOBOSA; MOSAIC DYSTROPHY; PIGMENT DISPERSION; X-LINKED MEGALOCORNEA; LINKAGE ANALYSIS; GENE MAPPING;

D O I：

10.3109/13816819109029398

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

A family with X-linked megalocornea (XMC) is presented. The most typical ocular features of the disease (cornea globosa, arcus lipoides, mosaic dystrophy of the cornea, pigment dispersion, and cataract) are described and their diagnostic value is discussed by reviewing the literature. Linkage data suggest that the XMC locus maps in the region Xq13-q25, most probably in Xq21-q22.

引用

页码：153 / 157

页数：5

共 14 条

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[2]

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[3]

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[4]

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[5]

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[7]

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[8]

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[9]

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[10]

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