title: A novel mutation and novel features in Nijmegen breakage      syndrome.
authors: P
authors: P
authors: Maraschio
authors: C
authors: C
authors: Danesino
authors: A
authors: A
authors: Antoccia
authors: R
authors: R
authors: Ricordy
authors: C
authors: C
authors: Tanzarella
authors: R
authors: R
authors: Varon
authors: A
authors: A
authors: Reis
authors: D
authors: D
authors: Besana
authors: A
authors: A
authors: Guala
authors: L
authors: L
authors: Tiepolo
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001260:Ataxia Telangiectasia / Q000235:genetics / Q000473:pathology; D001483:Base Sequence; D002675:Child, Preschool; D002869:Chromosome Aberrations; D019457:Chromosome Breakage; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D006130:Growth Disorders / Q000473:pathology; D006801:Humans; D008831:Microcephaly / Q000473:pathology; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D017689:Polydactyly / Q000473:pathology; D017384:Sequence Deletion; D013577:Syndrome; D014178:Translocation, Genetic
chemical_list: D009687:Nuclear Proteins; D004247:DNA