title: TSEN54 mutation in a child with pontocerebellar hypoplasia type 1.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
authors.forename: Denise
authors.initials: D
authors.lastname: Cassandrini
authors.forename: Diana
authors.initials: D
authors.lastname: Bazan
authors.forename: Filippo Maria
authors.initials: FM
authors.lastname: Santorelli
mesh_terms: D002531:Cerebellum / Q000473:pathology*; D002648:Child; D004722:Endoribonucleases / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009849:Olivopontocerebellar Atrophies / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D011149:Pons / Q000473:pathology*; D012720:Severity of Illness Index
chemical_list: D004722:Endoribonucleases; C559616:TSEN54 protein, human