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

dc.contributor.authorGreally, M.
dc.contributor.authorDobyns, W. B.
dc.contributor.authorFoulon, M.
dc.contributor.authorJaeken, J.
dc.contributor.authorMundlos, S.
dc.contributor.authorKayserili, H.
dc.contributor.authorYuksel-Apak, M.
dc.contributor.authorVan Maldergem, L.
dc.contributor.authorSeemanova, E.
dc.contributor.authorGiurgea, S.
dc.contributor.authorBasel-Vanagaite, L.
dc.contributor.authorLeao-Teles, E.
dc.contributor.authorVigneron, J.
dc.date.accessioned2021-03-03T10:42:45Z
dc.date.available2021-03-03T10:42:45Z
dc.date.issued2008
dc.identifier.citationVan Maldergem L., Yuksel-Apak M., Kayserili H., Seemanova E., Giurgea S., Basel-Vanagaite L., Leao-Teles E., Vigneron J., Foulon M., Greally M., et al., "Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type", NEUROLOGY, cilt.71, sa.20, ss.1602-1608, 2008
dc.identifier.issn0028-3878
dc.identifier.othervv_1032021
dc.identifier.otherav_2434a429-92fa-4372-bff7-85d0546087b9
dc.identifier.urihttp://hdl.handle.net/20.500.12627/29234
dc.identifier.urihttps://doi.org/10.1212/01.wnl.0000327822.52212.c7
dc.description.abstractObjective: 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.
dc.language.isoeng
dc.subjectSağlık Bilimleri
dc.subjectNöroloji
dc.subjectDahili Tıp Bilimleri
dc.subjectTıp
dc.subjectKlinik Tıp (MED)
dc.subjectKlinik Tıp
dc.subjectKLİNİK NEUROLOJİ
dc.titleCobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type
dc.typeMakale
dc.relation.journalNEUROLOGY
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume71
dc.identifier.issue20
dc.identifier.startpage1602
dc.identifier.endpage1608
dc.contributor.firstauthorID190099


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