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Molecular diagnosis as a strategy for gap diagnosis and on early ages of neurofibromatosis type 1 NF1. Correspondencia a: Neurofibromatosis type 1 NF1 , is a haploinsufficient moreover multisystemic disease, caused by inherited or else sporadic mutations fashionable the NF1 genetic material. Its incidence is one in 2, to 3, individuals, it has an autosomal dominant motif of inheritance, sybaritic clinical variability, ideal penetrance and age-dependent complications.
Neurofibromin is the product of the NF1 rna and is believed to act seeing that a tumor suppressor since the annihilation of its formality has been allied with benign with malignant tumors inwards neural crest-derived tissues. Only two correlations between clinical phenotype and mutant alleles in the NF1 gene have anachronistic observed.
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