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Constitutional mismatch repair deficiency syndrome: Clues from the clinic, proof in the genes

Background: Constitutional mismatch repair deficiency (CMMRD), a rare autosomal recessive cancer predisposition syndrome, is characterized by neurocutaneous stigmata and early-onset aggressive multisystem malignancies. Data from low and middle-income countries is limited. Case series: Eight children...

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Principais autores: Gnanamani Senguttuvan, Jonathan David Livingstone, Pulipati Mercy Kiranmai, Hema N. Srinivasan, Leenu Lizbeth Joseph, Rikki R. John, Leni G. Mathew
פורמט: Artigo
שפה:Inglês
יצא לאור: Elsevier 2026-06-01
סדרה:Pediatric Hematology Oncology Journal
נושאים:
CMMRD
Cancer predisposition
Consanguinity
Café au lait macules
Neuroimaging
גישה מקוונת:http://www.sciencedirect.com/science/article/pii/S2468124526000240
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