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Papers of the Week
A rare NF1 gene mutation in a Chinese patient with neurofibromatosis type 1 and anaplastic astrocytoma.
Abstract
Neurofibromatosis type 1 (NF1), a dysregulated neurocutaneous disorder, is an autosomal dominant genetic diease caused by mutations in the NF1 gene. Anaplastic astrocytoma is very rare in NF1 patients and research has proposed that high-grade astrocytomas could be due to larger germ-line mutations in NF1.We present a clinical and molecular study of a Chinese family with NF1.