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- W4210485456 abstract "L’identification des gènes responsables des principaux syndromes hypertrophiques avec atteinte vasculaire a permis de distinguer plusieurs types d’AP aux caractéristiques sémiologiques stéréotypées : l’angiome plan géographique (mutations du gène PIK3CA) est associé à une malformation lymphatique, un syndrome hypertrophique et des anomalies des extrémités ; l’angiomatose plane réticulée associée soit à une macrocéphalie et des anomalies des extrémités (mutations du gène PIK3CA), soit à une composante pigmentaire sans anomalie des extrémités (mutation du gène GNA 11) ; l’angiome plan « tache de vin » associé à des malformations veineuses et un syndrome hypertrophique (mutations du gène GNAQ) ; les malformations capillaires multiples associées aux MAV (mutations des gènes RASA1 et EPHB4). Identification of the genes responsible for major hypertrophic/overgrowth syndromes with vascular impairment, allows several types of capillary malformations with stereotypical semiological characteristics to be distinguished: geographic capillary malformations (PIK3CA gene mutations) is associated with lymphatic malformation, hypertrophic syndrome and abnormalities on the squeletal anomalies; reticulated angiomatosis associated with either macrocephaly and abnormalities on the squeletal anomalies (PIK3CA gene mutations) or a pigment component without abnormalities on the limbs (GNA 11 gene mutations); “port-wine stain type” capillary malformation(PWS) associated with venous malformations and hypertrophic syndrome (GNAQ gene mutations) multiple capillary malformations (CM) associated with arteriovenous malformations (AVM) (RASA1 and EPHB4 gene mutations)." @default.
- W4210485456 created "2022-02-08" @default.
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- W4210485456 date "2021-01-01" @default.
- W4210485456 modified "2023-09-30" @default.
- W4210485456 title "Angiomes plans" @default.
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- W4210485456 doi "https://doi.org/10.1016/j.fander.2020.08.001" @default.
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