From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
neurofibromatosis 1
neurofibromatosis 2
schwannomatosis
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
06 2019
06 2019
Historique:
received:
30
12
2018
accepted:
09
02
2019
pubmed:
26
3
2019
medline:
11
6
2020
entrez:
26
3
2019
Statut:
ppublish
Résumé
The neurofibromatoses are inherited, tumor suppressor disorders that are characterized by multiple, benign peripheral nerve sheath tumors and other nervous system tumors. Each disease is associated with a distinct genetic mutation and with a different pathogenesis and clinical course. Neurofibromatosis 1 (NF1) is common and epitomized by multiple neurofibromas with widespread complications. NF2 and schwannomatosis are rare diseases that are typified by multiple schwannomas that are particularly painful in people with schwannomatosis. Since 1985, the Children's Tumor Foundation (formerly the National Neurofibromatosis Foundation) has hosted an international Neurofibromatosis Conference, bringing together international participants who are focused on NF research and clinical care. The 2017 Conference, held in Washington, DC, was among the largest gatherings of NF researchers to date and included presentations from clinicians and basic scientists, highlighting new data regarding the molecular and cellular mechanisms underlying each of these diseases as well as results from clinical studies and clinical trials. This article summarizes the findings presented at the meeting and represents the current state-of-the art for NF research.
Identifiants
pubmed: 30908866
doi: 10.1002/ajmg.a.61112
pmc: PMC6488427
mid: NIHMS1015946
doi:
Types de publication
Congress
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1098-1106Subventions
Organisme : NCI NIH HHS
ID : P50 CA211015
Pays : United States
Organisme : NIH HHS
ID : P51 OD011092
Pays : United States
Organisme : NINDS NIH HHS
ID : R13 NS103421
Pays : United States
Organisme : NCI NIH HHS
ID : U54 CA196519
Pays : United States
Informations de copyright
© 2019 Wiley Periodicals, Inc.
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