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Adams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a family

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Adams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a family

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dc.contributor.author D'Amico, Alessandra pl
dc.contributor.author Melis, Daniela pl
dc.contributor.author D'Arco, Felice pl
dc.contributor.author Di Paolo, Nilde pl
dc.contributor.author Carotenuto, Barbara pl
dc.contributor.author D'Anna, Gennaro pl
dc.contributor.author Russo, Carmela pl
dc.contributor.author Boemio, Pasquale pl
dc.contributor.author Brunetti, Arturo pl
dc.date.accessioned 2017-09-05T11:56:15Z
dc.date.available 2017-09-05T11:56:15Z
dc.date.issued 2013 pl
dc.identifier.issn 1733-134X pl
dc.identifier.uri http://ruj.uj.edu.pl/xmlui/handle/item/43851
dc.language eng pl
dc.rights Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska *
dc.rights.uri http://creativecommons.org/licenses/by-nc-nd/3.0/pl/legalcode *
dc.title Adams Oliver syndrome : description of a new phenotype with cerebellar abnormalities in a family pl
dc.type JournalArticle pl
dc.description.physical 83-87 pl
dc.description.additional Bibliogr. s. 86-87 pl
dc.abstract.en Background: To describe cerebellar abnormalities in a family composed by a father and two affected sibs with Adams Oliver syndrome (AOS) (OMIM 100300). Material/Methods: Brain MRI and MR angiography were performed at 1.5T. Results: The siblings presented cerebellar cortex dysplasia characterized by the presence of cysts. Conclusions: Abnormalities of CNS are an unusual manifestation of AOS. To our knowledge, this is the first report of cerebellar cortical dysplasia in a family with AOS. pl
dc.subject.en Adams Oliver syndrome pl
dc.subject.en cerebellar cysts pl
dc.subject.en cerebellar cortical dysplasia pl
dc.subject.en MRI pl
dc.description.volume 78 pl
dc.description.number 4 pl
dc.identifier.doi 10.12659/PJR.889531 pl
dc.identifier.eissn 1899-0967 pl
dc.title.journal Polish Journal of Radiology pl
dc.language.container eng pl
dc.subtype Article pl
dc.rights.original CC-BY-NC-ND; otwarte czasopismo; ostateczna wersja wydawcy; w momencie opublikowania; 0; pl


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Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska Except where otherwise noted, this item's license is described as Udzielam licencji. Uznanie autorstwa - Użycie niekomercyjne - Bez utworów zależnych 3.0 Polska