LEADER 01923nam 2200373 450 001 9910688389103321 005 20230704143258.0 035 $a(CKB)5850000000050352 035 $a(NjHacI)995850000000050352 035 $a(EXLCZ)995850000000050352 100 $a20230704d2022 uy 0 101 0 $aeng 135 $aur||||||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aClinical and Basic Aspects of Neurofibromatosis Type 1 /$fedited by Juichiro Nakayama, Yuichi Yoshida 210 1$aLondon :$cIntechOpen,$d2022. 210 4$dİ2022 215 $a1 online resource (144 pages) 311 $a1-83968-964-1 320 $aIncludes bibliographical references and index. 330 $aNeurofibromatosis 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. 606 $aClinical neuropsychology 615 0$aClinical neuropsychology. 676 $a616.8 702 $aYoshida$b Yuichi 702 $aNakayama$b Juichiro 801 0$bNjHacI 801 1$bNjHacl 906 $aBOOK 912 $a9910688389103321 996 $aClinical and Basic Aspects of Neurofibromatosis Type 1$92903034 997 $aUNINA