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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Bibliographic Details
Published in: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
Format: Artigo
Language:Inglês
Published: BMJ Publishing Group 2021
Subjects:
Developmental Defects
Online Access: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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