title: XNP mutation in a large family with Juberg-Marsidi syndrome.
authors.forename: L
authors.initials: L
authors.lastname: Villard
authors.forename: J
authors.initials: J
authors.lastname: Gecz
authors.forename: J F
authors.initials: JF
authors.lastname: Mattéi
authors.forename: M
authors.initials: M
authors.lastname: Fontés
authors.forename: P
authors.initials: P
authors.lastname: Saugier-Veber
authors.forename: A
authors.initials: A
authors.lastname: Munnich
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002874:Chromosome Mapping; D004265:DNA Helicases; D017931:DNA Primers / Q000235:genetics; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D013577:Syndrome; D014960:X Chromosome / Q000235:genetics; D000075924:X-linked Nuclear Protein; D017085:alpha-Thalassemia / Q000235:genetics
chemical_list: D017931:DNA Primers; D009687:Nuclear Proteins; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein