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pro vyhledávání: '"Juliette Albuisson"'
Autor:
Yline Capri, Juliette Albuisson, Patrick Bruneval, Dorien Schepers, Pascaline Letard, Nadia Belarbi, Bart Loeys, Fabien Guimiot, Anne-Lise Delezoide, Gerarda van de Beek, Emmanuel Spaggiari, Suonavy Khung-Savatovsky
Publikováno v:
Molecular syndromology
EFEMP2 mutations are known to be responsible for autosomal recessive cutis laxa type 1B (ARCL1B), a rare multisystem disease affecting skin, skeleton, and vascular structures. We report 2 additional related cases of ARCL1B of particular severity lead