Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia

• Váldodahkkit: Ferruccio Romano (Dahkki), Elisabetta Amadori (Dahkki), Francesca Madia (Dahkki), Mariasavina Severino (Dahkki), Valeria Capra (Dahkki), Renata Rizzo (Dahkki), Rita Barone (Dahkki), Beatrice Corradi (Dahkki), Luca Maragliano (Dahkki), Mohammad Sadegh Shams Nosrati (Dahkki), Antonio Falace (Dahkki), Pasquale Striano (Dahkki), Federico Zara (Dahkki), Marcello Scala (Dahkki)
• Materiálatiipa: Girji
• Almmustuhtton: Frontiers Media S.A., 2023-12-01T00:00:00Z.
• Fáttát: article
• Liŋkkat: Connect to this object online.

Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental disorder with microcephaly and malformations of cortical develo...