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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...
Enregistré dans:
| Publié dans: | Orphanet J Rare Dis |
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| Auteurs principaux: | , , , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BioMed Central
2017
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| Sujets: | |
| Accès en ligne: | 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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