Connections between constitutional mismatch repair deficiency syndrome and neurofibromatosis type 1.

Wimmer, K; Rosenbaum, T; Messiaen, L

Wimmer, K; Rosenbaum, T; Messiaen, L.

Affiliation

Wimmer K; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.
Rosenbaum T; Department of Pediatrics, Sana Kliniken Duisburg, Wedau Kliniken, Duisburg, Germany.
Messiaen L; Medical Genomics Laboratory, Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA.

Clin Genet ; 91(4): 507-519, 2017 Apr.

Article in En | MEDLINE | ID: mdl-27779754

Subject(s)

Brain Neoplasms/diagnosis; Cafe-au-Lait Spots/diagnosis; Colorectal Neoplasms/diagnosis; Diagnosis, Differential; Neoplastic Syndromes, Hereditary/diagnosis; Neurofibromatosis 1/diagnosis; Brain Neoplasms/epidemiology; Brain Neoplasms/genetics; Brain Neoplasms/pathology; Cafe-au-Lait Spots/genetics; Cafe-au-Lait Spots/physiopathology; Child, Preschool; Colorectal Neoplasms/epidemiology; Colorectal Neoplasms/genetics; Colorectal Neoplasms/pathology; DNA Mismatch Repair/genetics; Germ-Line Mutation; Glioma/diagnosis; Glioma/genetics; Glioma/pathology; Humans; Leukemia, Myeloid, Acute/diagnosis; Leukemia, Myeloid, Acute/genetics; Leukemia, Myeloid, Acute/pathology; Neoplastic Syndromes, Hereditary/epidemiology; Neoplastic Syndromes, Hereditary/genetics; Neoplastic Syndromes, Hereditary/pathology; Neurofibromatosis 1/epidemiology; Neurofibromatosis 1/genetics; Neurofibromatosis 1/pathology; Phenotype; Rhabdomyosarcoma/diagnosis; Rhabdomyosarcoma/genetics; Rhabdomyosarcoma/pathology

Key words

acute myeloid leukaemia; café-au-lait spot; childhood cancer; constitutional mismatch repair deficiency; germline mutation; high-grade glioma; mismatch repair gene; neurofibromatosis type 1; rhabdomyosarcoma

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Neoplastic Syndromes, Hereditary / Brain Neoplasms / Colorectal Neoplasms / Neurofibromatosis 1 / Cafe-au-Lait Spots / Diagnosis, Differential Type of study: Diagnostic_studies Limits: Child, preschool / Humans Language: En Journal: Clin Genet Year: 2017 Document type: Article Affiliation country: Austria Country of publication: Denmark

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