title: Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome.
authors.forename: L
authors.initials: L
authors.lastname: Villard
authors.forename: M
authors.initials: M
authors.lastname: Fontès
authors.forename: L C
authors.initials: LC
authors.lastname: Adès
authors.forename: J
authors.initials: J
authors.lastname: Gecz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004265:DNA Helicases; D004252:DNA Mutational Analysis; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D017354:Point Mutation; D017384:Sequence Deletion; D012689:Sequence Homology, Nucleic Acid; D013577:Syndrome; D000075924:X-linked Nuclear Protein
chemical_list: D009687:Nuclear Proteins; D004247:DNA; D004265:DNA Helicases; C092332:ATRX protein, human; D000075924:X-linked Nuclear Protein