Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia

Abstract Background Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia disorder characterized by epistaxis, mucocutaneous telangiectasias and arteriovenous malformations in internal organs. Recurrent epistaxis is the primary complaint in 90%‐96% of HHT patients and the other symptom...

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Autores principales:	Yali Zhao, Yuan Zhang, Xiangdong Wang, Luo Zhang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Wiley 2019-09-01
Colección:	Molecular Genetics & Genomic Medicine
Materias:	ACVRL1 ENG epistaxis hereditary hemorrhagic telangiectasia variants
Acceso en línea:	https://doi.org/10.1002/mgg3.893
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