Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type


Van Maldergem L., Yuksel-Apak M., Kayserili H., Seemanova E., Giurgea S., Basel-Vanagaite L., ...Daha Fazla

NEUROLOGY, cilt.71, ss.1602-1608, 2008 (SCI İndekslerine Giren Dergi) identifier identifier identifier

Özet

Objective: To delineate a new syndrome of brain dysgenesis and cutis laxa based on the description of 11 patients belonging to nine unrelated families recruited through an international collaboration effort.