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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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Библиографические подробности
Опубликовано в: :Orphanet J Rare Dis
Главные авторы: Avagliano, Laura, Grazioli, Paolo, Mariani, Milena, Bulfamante, Gaetano P., Selicorni, Angelo, Massa, Valentina
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2017
Предметы:
Online-ссылка: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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