Nijmegen breakage syndrome (NBS)

Orphanet Journal of Rare Diseases

Volumn 7, Issue 1, 2012, Pages

  Chrzanowska, Krystyna H ^a   Gregorek, Hanna ^a   Dembowska Bagińska, Bozenna ^a   Kalina, Maria A ^b   Digweed, Martin ^c  

^a CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^b MEDICAL UNIVERSITY OF SILESIA   (Poland)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

Chromosomal instability; Hypergonadotropic hypogonadism; Immunodeficiency; Microcephaly; Nijmegen breakage syndrome; Predisposition to malignancy

Indexed keywords

IMMUNOGLOBULIN; NIBRIN; CELL CYCLE PROTEIN; NBN PROTEIN, HUMAN; NUCLEAR PROTEIN;

ACUTE LYMPHOBLASTIC LEUKEMIA; ACUTE MYELOBLASTIC LEUKEMIA; APLASTIC ANEMIA; BRAIN MALFORMATION; CHROMOSOME 14; CHROMOSOME 7; CHROMOSOME BREAKAGE; DNA SYNTHESIS; FACE DYSMORPHIA; GENE MUTATION; GENE REARRANGEMENT; GENETIC COUNSELING; GROWTH; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN BLOOD LEVEL; INCIDENCE; INFECTION; LARGE CELL LYMPHOMA; MEDULLOBLASTOMA; MICROCEPHALY; NIJMEGEN BREAKAGE SYNDROME; NONHODGKIN LYMPHOMA; POLYDACTYLY; PRENATAL DIAGNOSIS; PROGNOSIS; PUBERTY; REVIEW; SEX DIFFERENCE; SPEECH THERAPY; T LYMPHOCYTE; ADOLESCENT; ADULT; CHROMOSOMAL INSTABILITY; FEMALE; GENETICS; HYPOGONADISM; NEOPLASM; PATHOLOGY; PATHOPHYSIOLOGY; PRESCHOOL CHILD; RECESSIVE GENE;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD, PRESCHOOL; CHROMOSOMAL INSTABILITY; FEMALE; GENES, RECESSIVE; HUMANS; HYPOGONADISM; IMMUNOLOGIC DEFICIENCY SYNDROMES; MICROCEPHALY; NEOPLASMS; NIJMEGEN BREAKAGE SYNDROME; NUCLEAR PROTEINS; YOUNG ADULT;

EID: 84857427879     PISSN: None     EISSN: 17501172     Source Type: Journal    
DOI: 10.1186/1750-1172-7-1322373003     Document Type: Review

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