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

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

Abstract 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...

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Bibliographic Details
Main Authors: Laura Avagliano, Paolo Grazioli, Milena Mariani, Gaetano P. Bulfamante, Angelo Selicorni, Valentina Massa
Format: Article
Language:English
Published: BMC 2017-11-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Brain abnormalities
Cornelia de Lange syndrome
Wnt pathway
Online Access:http://link.springer.com/article/10.1186/s13023-017-0723-0

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