A novel mutation and novel features in Nijmegen breakage      syndrome.
Maraschio
P
P
Danesino
C
C
Antoccia
A
A
Ricordy
R
R
Tanzarella
C
C
Varon
R
R
Reis
A
A
Besana
D
D
Guala
A
A
Tiepolo
L
L
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
D009687:Nuclear Proteins; D004247:DNA