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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Foilsithe 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
Formáid: Artigo
Teanga:Inglês
Foilsithe: BMJ Publishing Group 2021
Ábhair:
Developmental Defects
Rochtain Ar Líne: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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