title: [Familial EXOSC3-related pontocerebellar hypoplasia].
authors.affiliation: Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, , Zaragoza, España. Electronic address: annadigiov@live.it.
authors.forename: Anna Paola
authors.initials: AP
authors.lastname: Di Giovambattista
authors.affiliation: Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, , Zaragoza, España.
authors.forename: Itxaropena
authors.initials: I
authors.lastname: Jácome Querejeta
authors.affiliation: Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, , Zaragoza, España.
authors.forename: Purificación
authors.initials: P
authors.lastname: Ventura Faci
authors.affiliation: Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, , Zaragoza, España.
authors.forename: Gerardo
authors.initials: G
authors.lastname: Rodríguez Martínez
authors.affiliation: Servicio de Pediatría, Hospital Clínico Universitario Lozano Blesa, , Zaragoza, España.
authors.forename: Feliciano
authors.initials: F
authors.lastname: Ramos Fuentes
mesh_terms: D002526:Cerebellar Diseases / Q000235:genetics*; D063326:Exosome Multienzyme Ribonuclease Complex / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D016601:RNA-Binding Proteins / Q000235:genetics*
chemical_list: C571397:EXOSC3 protein, human; D016601:RNA-Binding Proteins; D063326:Exosome Multienzyme Ribonuclease Complex