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

Tarih
2008
Yazar
Greally, M.
Dobyns, W. B.
Foulon, M.
Jaeken, J.
Mundlos, S.
Kayserili, H.
Yuksel-Apak, M.
Van Maldergem, L.
Seemanova, E.
Giurgea, S.
Basel-Vanagaite, L.
Leao-Teles, E.
Vigneron, J.
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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.
Bağlantı
http://hdl.handle.net/20.500.12627/29234
https://doi.org/10.1212/01.wnl.0000327822.52212.c7
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