01923nam 2200373 450 991068838910332120230704143258.0(CKB)5850000000050352(NjHacI)995850000000050352(EXLCZ)99585000000005035220230704d2022 uy 0engur|||||||||||txtrdacontentcrdamediacrrdacarrierClinical and Basic Aspects of Neurofibromatosis Type 1 /edited by Juichiro Nakayama, Yuichi YoshidaLondon :IntechOpen,2022.©20221 online resource (144 pages)1-83968-964-1 Includes bibliographical references and index.Neurofibromatosis type 1 (NF1), also known as von Recklinghausen disease, is a major monogenic neurocutaneous disorder. The NF1 gene encodes the protein neurofibromin whose dysfunction promotes tumorigenesis in central and peripheral neuronal tissues. In addition to inducing the formation of cutaneous pigmented lesions or neurofibromas, NF1 affects multiple organ systems, resulting in neurological and psychiatric disorders, orthopedic conditions, and impaired endocrine functions. This book examines the fundamental, clinical, and basic aspects of NF1 over three sections and nine chapters. Topics addressed include bone lesions in children with NF1, diffuse neurofibromatous tissue, seizures in adults with NF1, Ras-GAP function of neurofibromin, endocrine disorders characteristic of NF1, and more.Clinical neuropsychologyClinical neuropsychology.616.8Yoshida YuichiNakayama JuichiroNjHacINjHaclBOOK9910688389103321Clinical and Basic Aspects of Neurofibromatosis Type 12903034UNINA