Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family

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Hereditary endotheliopathy with retinopathy and encephalopathy: pathological and genetic studies of a family

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

@yue

2015年論文

@zh-hant

2015年論文

@zh-hk

2015年論文

@zh-mo

2015年論文

@zh-tw

2015年论文

@wuu

2015年论文

@zh

2015年论文

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Hereditary endotheliopathy wit ...... nd genetic studies of a family

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Hereditary endotheliopathy wit ...... nd genetic studies of a family

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Hereditary endotheliopathy wit ...... nd genetic studies of a family

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Hereditary endotheliopathy wit ...... nd genetic studies of a family

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Hereditary endotheliopathy wit ...... nd genetic studies of a family

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Hereditary endotheliopathy wit ...... nd genetic studies of a family

@en

P1476

Hereditary endotheliopathy wit ...... nd genetic studies of a family

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P2093

Bing Liao

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Jian Sun

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Jin-Sheng Zeng

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Ling Chen

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Shi-Hui Xing

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Yu-Hua Fan

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Yun Yuan

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Zhong Pei

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P2860

Hereditary vascular retinopathy, cerebroretinal vasculopathy, and hereditary endotheliopathy with retinopathy, nephropathy, and stroke map to a single locus on chromosome 3p21.1-p21.3

[HERNS. A rare, hereditary, multisystemic disease with cerebral microangiopathy]

New roles for the major human 3'-5' exonuclease TREX1 in human disease.

C-terminal truncations in human 3'-5' DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy.

Cerebroretinal vasculopathy and leukoencephalopathy mimicking a brain tumor. Report of two early-onset cases with Fanconi's anemia-like phenotypes suggesting an autosomal-recessive inheritance pattern.

Novel ophthalmological features in hereditary endotheliopathy with retinopathy, nephropathy and stroke syndrome.

Cerebroretinal vasculopathy mimicking a brain tumor: a case of a rare hereditary syndrome.

Clinical and genetic analysis of a large Dutch family with autosomal dominant vascular retinopathy, migraine and Raynaud's phenomenon.

Hereditary endotheliopathy with retinopathy, nephropathy, and stroke (HERNS).

Cerebroretinal vasculopathy. A new hereditary syndrome

P304

9105-9111

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P31

scholarly article

P433

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P478

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2015-08-01T00:00:00Z

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26464653

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P932

4583885

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