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

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

NEUROLOGY, cilt.71, sa.20, ss.1602-1608, 2008 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 71 Sayı: 20
Basım Tarihi: 2008
Doi Numarası: 10.1212/01.wnl.0000327822.52212.c7
Dergi Adı: NEUROLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.1602-1608
İstanbul Üniversitesi Adresli: Evet

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.