A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report

BACKGROUND: In addition to its role in cell adhesion and gene expression in the canonical Wingless/integrated Wnt signaling pathway, β-catenin also regulates genes that underlie the transmission of nerve impulses. Mutations of CTNNB1 (β-catenin) have recently been described in patients with a wide r...

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Detalles Bibliográficos
Autores principales: Winczewska-Wiktor, Anna, Badura-Stronka, Magdalena, Monies-Nowicka, Anna, Nowicki, Michal Maciej, Steinborn, Barbara, Latos-Bieleńska, Anna, Monies, Dorota
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788907/
https://www.ncbi.nlm.nih.gov/pubmed/26968164
http://dx.doi.org/10.1186/s12883-016-0554-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4788907/
https://www.ncbi.nlm.nih.gov/pubmed/26968164
http://dx.doi.org/10.1186/s12883-016-0554-y

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