Phenotypic manifestations of C5orf42 pathogenic variants

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...

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Bibliografski detalji
Glavni autori: Elena-Silvia Shelby (Autor), Relu Cocos (Autor), Madalina Cristina Leanca (Autor), Andrada Mirea (Autor), Diana Barca (Autor)
Format: Knjiga
Izdano: Amaltea Medical Publishing House, 2022-03-01T00:00:00Z.
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