Current Status of Clinical and Genetic Screening of Hereditary Hemorrhagic Telangiectasia Families in Hungary.
ACVRL1
Curaçao criteria
ENG
SMAD4
family screening
genetic test
germline mutation
hereditary hemorrhagic telangiectasia
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
24 Aug 2021
24 Aug 2021
Historique:
received:
23
06
2021
revised:
15
08
2021
accepted:
20
08
2021
entrez:
10
9
2021
pubmed:
11
9
2021
medline:
11
9
2021
Statut:
epublish
Résumé
Hereditary hemorrhagic telangiectasia (HHT) is a rare germline vascular malformation syndrome with a prevalence of 1:5000-1:10,000 [...].
Identifiants
pubmed: 34501220
pii: jcm10173774
doi: 10.3390/jcm10173774
pmc: PMC8432115
pii:
doi:
Types de publication
Journal Article
Langues
eng
Subventions
Organisme : European Regional Development Fund
ID : GINOP-2.3.2-15-2016-00039
Organisme : National Research, Development and Innovation Office, Hungarian Ministry of Innovation and Technology
ID : OTKA K116228
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