Genetic syndromes with vascular malformations - update on molecular background and diagnostics.
arterial malformation
arteriovenous malformation
capillary malformation
lymphatic malformation
vascular malformation
venous malformation
Journal
Archives of medical science : AMS
ISSN: 1734-1922
Titre abrégé: Arch Med Sci
Pays: Poland
ID NLM: 101258257
Informations de publication
Date de publication:
2021
2021
Historique:
received:
19
04
2018
accepted:
09
09
2018
entrez:
2
8
2021
pubmed:
25
2
2020
medline:
25
2
2020
Statut:
epublish
Résumé
Vascular malformations are present in a great variety of congenital syndromes, either as the predominant or additional feature. They pose a major challenge to the clinician: due to significant phenotype overlap, a precise diagnosis is often difficult to obtain, some of the malformations carry a risk of life threatening complications and, for many entities, treatment is not well established. To facilitate their recognition and aid in differentiation, we present a selection of notable congenital disorders of vascular system development, distinguishing between the heritable germinal and sporadic somatic mutations as their causes. Clinical features, genetic background and comprehensible description of molecular mechanisms is provided for each entity.
Identifiants
pubmed: 34336026
doi: 10.5114/aoms.2020.93260
pii: 95011
pmc: PMC8314420
doi:
Types de publication
Journal Article
Langues
eng
Pagination
965-991Informations de copyright
Copyright: © 2020 Termedia & Banach.
Déclaration de conflit d'intérêts
The authors declare no conflict of interest.
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