Phenotypic manifestations of C5orf42 pathogenic variants

• Asıl Yazarlar: Elena-Silvia Shelby (Yazar), Relu Cocos (Yazar), Madalina Cristina Leanca (Yazar), Andrada Mirea (Yazar), Diana Barca (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Amaltea Medical Publishing House, 2022-03-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

Joubert syndrome is a genetic disease with an autosomal-recessive or X-linked inheritance pattern caused by pathogenic variants in at least 35 genes, all encoding structures of the primary cilium involved in signaling pathways that coordinate the normal development of the kidneys, retina, brain, liv...