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.; Leao-Teles, E.; Vigneron, J.; Foulon, M.; Greally, M.; Jaeken, J.; Mundlos, S.; Dobyns, W.

doi:10.1212/01.wnl.0000327822.52212.c7

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

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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)

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

Abstract

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.