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Vascular malformations: localized defects in vascular morphogenesis.

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Brouillard, Pascal [UCL] Vikkula, Miikka [UCL]

Vascular anomalies are localized defects of the vasculature, and usually affect a limited number of vessels in a restricted area of the body. They are subdivided into vascular malformations and vascular tumours. Most are sporadic, but Mendelian inheritance is observed in some families. By genetic analysis, several causative genes have been identified during the last 10 years. This has shed light into the pathophysiological pathways involved. Interestingly, in most cases, the primary defect seems to affect the characteristics of endothelial cells. Only mutations in the glomulin gene, responsible for hereditary glomuvenous malformations, are thought to directly affect vascular smooth-muscle cells.

Document type Article de périodique (Journal article) – Synthèse de littérature
Access type Accès restreint
Publication date 2003
Journal information "Clinical genetics" - Vol. 63, no. 5, p. 340-351 (2003)
Peer reviewed yes
Publisher Munksgaard ((Denmark) Copenhagen)
issn 0009-9163
e-issn 1399-0004
Publication status Publié
Affiliations UCL - MD/BICL - Département de biochimie et de biologie cellulaire
UCL - (SLuc) Centre de génétique médicale UCL
UCL - (SLuc) Centre de malformations vasculaires congénitales
MESH Subject Adaptor Proteins, Signal Transducing ; Blood Vessels - pathology - physiology ; Capillaries - abnormalities ; Hematologic Diseases - pathology ; Humans ; Lymphatic Diseases - diagnosis - genetics ; Models, Biological ; Muscle, Smooth, Vascular - cytology ; Mutation ; Neovascularization, Pathologic ; Signal Transduction ; Tacrolimus Binding Proteins - genetics ; Vascular Diseases - diagnosis - genetics
Keywords Angiogenesis ; Artery ; Caîllary ; Gene ; Genetic ; Hemangioma ; Lymphatic ; Vasculature ; Vascular anomaly ; Vein
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Bibliographic reference Brouillard, Pascal ; Vikkula, Miikka. Vascular malformations: localized defects in vascular morphogenesis.. In: Clinical genetics, Vol. 63, no. 5, p. 340-351 (2003)
Permanent URL http://hdl.handle.net/2078.1/21960