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Co-occurrence of Marfan syndrome and schizophrenia

Tijdschriftbijdrage - Tijdschriftartikel

Ondertitel:what can be learned?
We report on a young female patient diagnosed with Marfan syndrome upon admission to the psychiatric hospital for a first psychosis. Mutation analysis of FBN1 identified a de novo nonsense mutation (p.Glu178X). This finding implies co-occurrence of schizophrenia and Marfan syndrome, an observation that has been reported several times in the past. Although, this co-occurrence can be coincidental, several arguments provide strong evidence that Marfan syndrome and schizophrenia might share common etiological pathways. This observation can be important in light of both the etiology of schizophrenia and the diagnosis of Marfan syndrome. (c) 2012 Elsevier Masson SAS. All rights reserved.
Tijdschrift: European journal of medical genetics
ISSN: 1769-7212
Volume: 55
Pagina's: 252 - 255
Jaar van publicatie:2012
Trefwoorden:A1 Journal article
BOF-keylabel:ja
BOF-publication weight:0.5
CSS-citation score:1
Authors from:Government
Toegankelijkheid:Closed