Clinical and Basic Aspects of Neurofibromatosis Type 1
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 cutaneo...
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| Formato: | Online |
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| Idioma: | inglés |
| Publicado: |
IntechOpen
2022
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| Subjects: | |
| Acceso en liña: | ONIX_20220727_9781839689635_74 |
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| _version_ | 1869514980871634944 |
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| collection | Directory of Open Access Books |
| description | 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. |
| format | Online |
| id | doab-20.500.12854ir-90178 |
| institution | Directory of Open Access Books |
| language | eng |
| publishDate | 2022 |
| publishDateRange | 2022 |
| publishDateSort | 2022 |
| publisher | IntechOpen |
| publisherStr | IntechOpen |
| record_format | ojs |
| spelling | doab-20.500.12854ir-901782024-04-01T14:15:11Z Clinical and Basic Aspects of Neurofibromatosis Type 1 Nakayama, Juichiro Yoshida, Yuichi Neurology & clinical neurophysiology thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology 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. 2022-07-27T08:14:25Z 2022-07-27T08:14:25Z 2022 book ONIX_20220727_9781839689635_74 9781839689635 9781839689628 9781839689642 https://directory.doabooks.org/handle/20.500.12854/90178 eng image/jpeg n/a https://www.intechopen.com/books/10577 https://mts.intechopen.com/storage/books/10577/authors_book/authors_book.pdf IntechOpen IntechOpen 10.5772/intechopen.92953 10.5772/intechopen.92953 78a36484-2c0c-47cb-ad67-2b9f5cd4a8f6 9781839689635 9781839689628 9781839689642 IntechOpen 142 open access |
| spellingShingle | Neurology & clinical neurophysiology thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology Clinical and Basic Aspects of Neurofibromatosis Type 1 |
| title | Clinical and Basic Aspects of Neurofibromatosis Type 1 |
| title_full | Clinical and Basic Aspects of Neurofibromatosis Type 1 |
| title_fullStr | Clinical and Basic Aspects of Neurofibromatosis Type 1 |
| title_full_unstemmed | Clinical and Basic Aspects of Neurofibromatosis Type 1 |
| title_short | Clinical and Basic Aspects of Neurofibromatosis Type 1 |
| title_sort | clinical and basic aspects of neurofibromatosis type 1 |
| topic | Neurology & clinical neurophysiology thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology |
| topic_facet | Neurology & clinical neurophysiology thema EDItEUR::M Medicine and Nursing::MK Medical specialties, branches of medicine::MKJ Neurology and clinical neurophysiology |
| url | ONIX_20220727_9781839689635_74 |