HIGHLIGHTS
SUMMARY
Neurofibromatosis type 1 (NF1; OMIM 613113) or Von Recklinghausen disease is an autosomal dominant genetic disease related to pathogenic variant of the tumor suppressor gene NF1 (located on chromosome 17q11.2), predisposing affected subjects to a variety of benign (neurofibromas and plexiform neurofibromas) and malignant tumors. The lack of the NF1-neurofibromin product, a peptide with tumor-suppressor action, can cause uncontrolled cell proliferation in the central or peripheral nervous system and 2 of 9 multisystemic involvement (e_g, dermatological, cardiovascular, gastrointestinal, genitourinary, orthopedic, etc.), and so the disease includes a heterogeneous group of clinical . . .
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