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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Pubblicato in:J Med Genet
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Publishing Group 2021
Soggetti:
Developmental Defects
Accesso online: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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