Blue Sclera With and Without Corneal Fragility (Brittle Cornea Syndrome) in a Consanguineous Family Harboring ZNF469 Mutation (p.E1392X)

被引：27

作者：

Khan, Arif O. ^{[1
,2
]}

Aldahmesh, Mohammed A. ^{[2
]}

Mohamed, Jawahir N. ^{[2
]}

Alkuraya, Fowzan S. ^{[2
,3
,4
,5
]}

机构：

[1] King Khalid Eye Specialist Hosp, Div Pediat Ophthalmol, Riyadh 11462, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[3] King Saud Univ, Coll Med, Riyadh 11461, Saudi Arabia

[4] King Khalid Univ Hosp, Dept Pediat, Riyadh 11472, Saudi Arabia

[5] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

ARCHIVES OF OPHTHALMOLOGY | 2010年 / 128卷 / 10期

关键词：

EHLERS-DANLOS-SYNDROME; GENE;

D O I：

10.1001/archophthalmol.2010.238

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

[No abstract available]

引用

页码：1376 / 1379

页数：4

共 7 条

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[4]

2-O

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[6] BLUE SCLERAE AND KERATOGLOBUS - OCULAR SIGNS OF A SYSTEMIC CONNECTIVE TISSUE DISORDER [J].

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[7] BRITTLE CORNEA - A FAMILIAL TRAIT ASSOCIATED WITH BLUE SCLERA [J].

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