title: [Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome].
authors.forename: Patrick
authors.initials: P
authors.lastname: Edery
authors.forename: Eudeline
authors.initials: E
authors.lastname: Alix
authors.forename: Françoise
authors.initials: F
authors.lastname: Clerget-Darpoux
authors.forename: Anne-Louise
authors.initials: AL
authors.lastname: Leutenegger
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D001483:Base Sequence; D004392:Dwarfism / Q000235:genetics; D047108:Embryonic Development / Q000235:genetics; D005317:Fetal Growth Retardation / Q000235:genetics*; D006801:Humans; D008831:Microcephaly / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008954:Models, Biological; D008969:Molecular Sequence Data; D009154:Mutation / Q000502:physiology; D010009:Osteochondrodysplasias / Q000235:genetics; D012342:RNA, Small Nuclear / Q000235:genetics / Q000502:physiology; D022661:RNA, Untranslated / Q000235:genetics* / Q000502:physiology; D012720:Severity of Illness Index; D017381:Spliceosomes / Q000235:genetics*
chemical_list: D012342:RNA, Small Nuclear; D022661:RNA, Untranslated; C405482:U4 small nuclear RNA