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., ...More

NEUROLOGY, vol.71, no.20, pp.1602-1608, 2008 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 71 Issue: 20
  • Publication Date: 2008
  • Doi Number: 10.1212/01.wnl.0000327822.52212.c7
  • Journal Name: NEUROLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.1602-1608
  • Istanbul University Affiliated: Yes


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.