Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman–Diamond syndrome: Evidence from a multimodal approach

Shwachman–Diamond syndrome is a rare recessive genetic disease caused by mutations in SBDS gene, at chromosome 7q11. Phenotypically, the syndrome is characterized by exocrine pancreatic insufficiency, bone marrow dysfunction, skeletal dysplasia and variable cognitive impairments. Structural brain ab...

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Detalles Bibliográficos
Autores principales: Perobelli, Sandra, Alessandrini, Franco, Zoccatelli, Giada, Nicolis, Elena, Beltramello, Alberto, Assael, Baroukh M., Cipolli, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2015
Materias:
Regular Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4375735/
https://www.ncbi.nlm.nih.gov/pubmed/25844324
http://dx.doi.org/10.1016/j.nicl.2015.02.014

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