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

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...

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Detalles Bibliográficos
Autores principales: D’Amico, Alessandra, Melis, Daniela, D’Arco, Felice, Di Paolo, Nilde, Carotenuto, Barbara, D’Anna, Gennaro, Russo, Carmela, Boemio, Pasquale, Brunetti, Arturo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3908514/
https://www.ncbi.nlm.nih.gov/pubmed/24505229
http://dx.doi.org/10.12659/PJR.889531

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