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Neurofibromatosis type 1 and cerebellar T2-hyperintensities: the relationship to cognitive functioning

✍ Scribed by Ornella Piscitelli; Maria Cristina Digilio; Rossella Capolino; Daniela Longo; Vincenzo Di Ciommo

Book ID
111131929
Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
73 KB
Volume
54
Category
Article
ISSN
0012-1622

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## Abstract Heterozygous germ‐line mutations in DNA mismatch repair (__MMR__) genes predispose individuals to hereditary nonpolyposis colorectal cancer (HNPCC), whereas with homozygous __MMR__ gene mutations children are diagnosed at an early age with de novo neurofibromatosis type 1 (NF1) and/or h