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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Bibliografische gegevens
Gepubliceerd in:J Med Genet
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BMJ Publishing Group 2021
Onderwerpen:
Developmental Defects
Online toegang: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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