Multiple malignant diseases in a patient with Rothmund-Thomson syndrome with RECQL4 mutations: Case report and literature review

American Journal of Medical Genetics, Part A

Volumn 152, Issue 6, 2010, Pages 1575-1579

  Simon, T ^a   Kohlhase, J ^b   Wilhelm, C ^b   Kochanek, M ^a   De Carolis, B ^a   Berthold, F ^a  

^a UNIVERSITY OF COLOGNE   (Germany)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

Lymphoma; Osteosarcoma; RECQl4 mutation; Rothmund Thomson syndrome; Second malignant disease

Indexed keywords

CYCLOPHOSPHAMIDE; CYTARABINE; DEXAMETHASONE; DOXORUBICIN; ETOPOSIDE; IFOSFAMIDE; METHOTREXATE;

APLASIA; ARTICLE; BONE MARROW DEPRESSION; CANCER REGRESSION; CASE REPORT; DRUG FEVER; DRUG MEGADOSE; EXON; GENE; GENE MUTATION; HETEROZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; INTRON; LARGE CELL LYMPHOMA; MUCOSA INFLAMMATION; MULTIPLE CYCLE TREATMENT; NEUROTOXICITY; PRIORITY JOURNAL; RECQL4 GENE; ROTHMUND THOMSON SYNDROME; SKIN TOXICITY;

BONE NEOPLASMS; FATAL OUTCOME; HETEROZYGOTE; HUMANS; LEUKEMIA, LARGE GRANULAR LYMPHOCYTIC; LYMPHOMA, LARGE B-CELL, DIFFUSE; MALE; MUTATION; NEOPLASM REGRESSION, SPONTANEOUS; OSTEOSARCOMA; RECQ HELICASES; ROTHMUND-THOMSON SYNDROME; YOUNG ADULT;

EID: 77952747768     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33427     Document Type: Article

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