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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Detalhes bibliográficos
Publicado no:J Med Genet
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BMJ Publishing Group 2021
Assuntos:
Developmental Defects
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7785698/
https://ncbi.nlm.nih.gov/pubmed/32631816
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2019-106805
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