Dermatological manifestations in Costello syndrome: A prospective multicentric study of 31 HRAS-positive variant patients.
Didier BessisAnne-Claire BursztejnFanny Morice-PicardYline CapriSébastien BarbarotHélène AubertDamien BodetEmmanuelle BourratChristine ChiaveriniLaura PoujadeMarjolaine WillemsJacques RouanetAnne Dompmartin-BlanchèreDavid GenevièveMarion GerardEmmanuelle GinglingerSmail Hadj RabiaLudovic MartinJuliette Mazereeuw-HautierNathalie BibasNicolas MolinariFanchon HermanAlice PhanJulien RodHugues RogerSabine SigaudyAlban ZieglerYoann VialAlain VerloesHélène CaveDidier LacombePublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2024)
This validated phenotypic characterization of a large number of patients with CS will allow future researchers to make a positive diagnosis, and to differentiate CS from CFCS and NS.