Nijmegen breakage syndrome

Archives of Disease in Childhood

Volumn 82, Issue 5, 2000, Pages 400-406

  Hiel, J A ^a   Krajewska Walasek, M ^a   Bialecka, M ^a   Abramczuk, D ^a   Gregorek, H ^a   Michalkiewicz, J ^a   Perek, D ^a   Midro, A T ^a   Seemanova E ^a   Belohradsky, B H ^a   Solder B ^a   Weemaes, C M ^a   Barbi, G ^a   Wegner, R D ^a   Sperling, K ^a   Dixon, J ^a   Maraschio, P ^a   Marseglia, G L ^a   Green, A ^a   Taylor, A M ^a   Der Kaloustian, V M ^a   Komatsu, K ^a   Van Den Heuvel, L P ^a   Matsuura, S ^a   Conley, M E ^a   Concannon, P ^a   Gatti, R A ^a   Van Engelen, B G ^a   Gabreels F J ^a   Smeets, D F ^a   Van Der Burgt, I ^a   Chrzanovska, K H ^a   Bernatowska, E ^a   more..

^a The International Nijmegen Breakage Syndrome Study Group   (Netherlands)

Author keywords

Clinical features; Genotype; Laboratory features; NBS; NBS registry; Phenotype

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH DEFECT; CAFE AU LAIT SPOT; CANCER SUSCEPTIBILITY; CHROMOSOME 8Q; DNA REPAIR; DNA STRAND BREAKAGE; FACIES; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; IMMUNE DEFICIENCY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; PHENOTYPE; PRIORITY JOURNAL;

ABNORMALITIES; ADULT; CHROMOSOME BREAKAGE; CHROMOSOMES, HUMAN, PAIR 8; COMMON VARIABLE IMMUNODEFICIENCY; CONSANGUINITY; FACIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MICROCEPHALY; MUTATION; NEOPLASMS; PHENOTYPE; RADIATION TOLERANCE; REGISTRIES; SYNDROME;

EID: 0000770165     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.82.5.400     Document Type: Article

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