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遗传性出血性毛细血管扩张症:诊断与管理

Hereditary Hemorrhagic Telangiectasia: Diagnosis and Management.

作者信息

Angel Cuesta M

机构信息

Departamento de Bioquímica y Biología Molecular, Facultad de Farmacia, Complutense University of Madrid, 28040 Madrid, Spain.

CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras, Unidad 707, Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.

出版信息

J Clin Med. 2022 Aug 11;11(16):4698. doi: 10.3390/jcm11164698.

Abstract

Hereditary hemorrhagic telangiectasia (HHT), or Rendu-Osler-Weber syndrome, is a dominantly inheritable rare disease with a prevalence of 1:5000-10,000 inhabitants [...].

摘要

遗传性出血性毛细血管扩张症(HHT),又称伦杜-奥斯勒-韦伯综合征,是一种显性遗传性罕见疾病,发病率为每5000-10000名居民中有1例[...]。

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本文引用的文献

1
A Novel Splicing Mutation in the Gene as a Cause of HHT2.
J Clin Med. 2022 May 28;11(11):3053. doi: 10.3390/jcm11113053.
5
Sclerotherapy on Demand with Polidocanol to Treat HHT Nosebleeds.
J Clin Med. 2021 Aug 27;10(17):3845. doi: 10.3390/jcm10173845.
10
Founder Effects in Hereditary Hemorrhagic Telangiectasia.
J Clin Med. 2021 Apr 14;10(8):1682. doi: 10.3390/jcm10081682.

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