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Case report: “Major fetal cardiac pathology associated with a novel CTNND1 mutation”

BACKGROUND: The p120-ctn protein, encoded by CTNND1, is involved in intercellular connections and regulates epithelial–mesenchymal transformation. CTNND1 mutations can lead to blepharocheilodontic syndrome (BCDS). Increasing evidence shows that although BCDS mainly manifests as craniofacial and oral...

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Detalles Bibliográficos
Autores principales: Zhao, Xuliang, Li, Xu, Sun, Weiwei, Wei, Zhuojun, Yu, Min, Zhang, Man, Tian, Ruixia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10235691/
https://www.ncbi.nlm.nih.gov/pubmed/37274823
http://dx.doi.org/10.3389/fped.2023.1180381