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DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes

BACKGROUND: Cilia are dynamic cellular extensions that generate and sense signals to orchestrate proper development and tissue homeostasis. They rely on the underlying polarisation of cells to participate in signalling. Cilia dysfunction is a well-known cause of several diseases that affect multiple...

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Detalles Bibliográficos
Autores principales:	Marquez, Jonathan, Mann, Nina, Arana, Kathya, Deniz, Engin, Ji, Weizhen, Konstantino, Monica, Mis, Emily K, Deshpande, Charu, Jeffries, Lauren, McGlynn, Julie, Hugo, Hannah, Widmeier, Eugen, Konrad, Martin, Tasic, Velibor, Morotti, Raffaella, Baptista, Julia, Ellard, Sian, Lakhani, Saquib Ali, Hildebrandt, Friedhelm, Khokha, Mustafa K
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2021
Materias:	Developmental Defects
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7785698/ https://www.ncbi.nlm.nih.gov/pubmed/32631816 http://dx.doi.org/10.1136/jmedgenet-2019-106805

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