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Integrating molecular and structural findings: Wnt as a possible actor in shaping cognitive impairment in Cornelia de Lange syndrome

Cornelia de Lange Syndrome (CdLS) is a choesinopathy: a severe genetic disorder caused by mutations in the cohesin complex genes. The phenotype is characterized by typical facial dysmorphism, growth impairment and multiorgan abnormalities including brain alterations. Wnt pathway is known to play a f...

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Bibliographic Details
Published in:Orphanet J Rare Dis
Main Authors: Avagliano, Laura, Grazioli, Paolo, Mariani, Milena, Bulfamante, Gaetano P., Selicorni, Angelo, Massa, Valentina
Format: Artigo
Language:Inglês
Published: BioMed Central 2017
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5696803/
https://ncbi.nlm.nih.gov/pubmed/29162129
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-017-0723-0
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