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Frontiers in Genetics, ISSN 1664-8021, 2015, Volume 5, p. 1
Hereditary hemorrhagic telangiectasia (HHT) is a vascular dysplasia characterized by telangiectases and arteriovenous malformations (AVMs) in particular... 
Genetics | Molecular diagnostics | Rendu-Osler-Weber | HHT | Arteriovenous malformation | Telangiectasia | SMAD4 MUTATIONS | PATHOGENESIS | MALFORMATIONS | MANAGEMENT | MAPS | VARIANTS | PULMONARY ARTERIAL-HYPERTENSION | ENDOGLIN | GENETICS & HEREDITY | JUVENILE POLYPOSIS | CHILDREN | arteriovenous malformation | Rendu-osler-weber
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 07/2018, Volume 176, Issue 7, pp. 1618 - 1621
Mosaicism in hemorrhagic telangiectasia (HHT) has been previously identified when testing blood samples of HHT patients. We report the first detection of... 
hereditary hemorrhagic telangiectasia | mosaicism | sequencing | DISEASE | GENETICS & HEREDITY | Telangiectasis | Nucleotide sequencing | Genetic screening | DNA sequencing | Hair | Clonal deletion | Peripheral blood | Mosaicism | Hereditary hemorrhagic telangiectasia | Mutation | Smad4 protein | Hemorrhage | Saliva | Deoxyribonucleic acid--DNA
Journal Article
Journal Article
Journal Article