SBDS mutations and isochromosome 7q in a patient with Shwachman-Diamond syndrome: No predisposition to malignant transformation?

Cancer Genetics and Cytogenetics

Volumn 154, Issue 2, 2004, Pages 144-149

  Mellink, C H M ^a   Alders, M ^a   Van Der Lelie, H ^a   Hennekam, R H C ^a,b   Kuijpers, T W ^b  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b EMMA CHILDREN S HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BONE MARROW; CASE REPORT; FEMALE; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; HYPOPLASIA; ISOCHROMOSOME; MALIGNANT TRANSFORMATION; MYELODYSPLASIA; PANCREAS; PRIORITY JOURNAL; RECURRENT INFECTION; SHWACHMAN SYNDROME;

ADULT; ANEMIA, APLASTIC; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 7; DISEASE SUSCEPTIBILITY; EXOCRINE PANCREATIC INSUFFICIENCY; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; ISOCHROMOSOMES; KARYOTYPING; MUSCULOSKELETAL ABNORMALITIES; MUTATION; MYELODYSPLASTIC SYNDROMES; PROTEINS; SYNDROME;

EID: 5144224123     PISSN: 01654608     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cancergencyto.2004.02.001     Document Type: Article

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