Phenotypic manifestations of C5orf42 pathogenic variants

• Main Authors: Elena-Silvia Shelby (Author), Relu Cocos (Author), Madalina Cristina Leanca (Author), Andrada Mirea (Author), Diana Barca (Author)
• Format: Book
• Published: Amaltea Medical Publishing House, 2022-03-01T00:00:00Z.
• Subjects: article
• Online Access: 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...