Germline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling

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TitreGermline loss-of-function mutations in EPHB4 cause a second form of capillary malformation-arteriovenous malformation (CM-AVM2) deregulating RAS-MAPK signaling
Type de publicationJournal Article
Year of Publication2019
AuteursRevencu N., Amyere M., Helaers R., Pairet E., Baselga E., Cordisco M., Chung W., Dubois J., Lacour J., Martorell L., Mazereeuw-Hautier J., Pyeritz R., Amor D., Bisdorff A., Blei F., Bombei H., Dompmartin A., Brooks D., Dupont J., Gonzalez-Ensenat M., Frieden I., Gerard M., Kvarnung M., A. Hanson-Kahn K, Hudgins L., Leaute-Labreze C., McCuaig C., Metry D., Parent P., Paul C., Petit F., Phan A., Quere I., Salhi A., Turner A., Vabres P., Vicente A., Wargon O., Watanabe S., Weibel L., Wilson A., Willing M., Mulliken J., Boon L., Vikkula M.
JournalEUROPEAN JOURNAL OF HUMAN GENETICS
Volume27
Pagination844-845
Date PublishedJUL
Type of ArticleMeeting Abstract
ISSN1018-4813