Refining the mutational spectrum and gene-phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study.
Sara NuovoAlessia MicalizziLudovica PascaFilippo ArrigoniMonia GinevrinoAntonella CasellaValentina SerpieriStefano D'ArrigoMarilena BriguglioGrazia Gabriella SalernoSara RossatoStefano SartoriVincenzo LeuzziRoberta BattiniBruria Ben-ZeevClaudio GrazianoMarisol Mirabelli BadenierVesna BrankovicNardo NardocciRonen SpiegelDanijela Petković RamadžaGiovanni VentoItxaso MartiAlessandro SimonatiSavina DipresaElena FreriTommaso MazzaMaria Teresa BassiLuca BoscoLorena TravagliniGinevra ZanniEnrico Silvio BertiniNicola VanacoreRenato BorgattiEnza Maria ValentePublished in: Journal of medical genetics (2021)
CASK represents the major PCH causative gene in Italy. Phenotypic variability associated with the most common genetic causes of PCH is wider than previously thought, with marked overlap between CASK and TSEN54-associated disorders.