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The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathway
Author(s) -
Stevenson David A.,
Schill Lisa,
Schoyer Lisa,
Andresen Brage S.,
Bakker Annette,
BayrakToydemir Pinar,
BurkittWright Emma,
Chatfield Kathryn,
Elefteriou Florent,
Elgersma Ype,
Fisher Michael J.,
Franz David,
Gelb Bruce D.,
Goriely Anne,
Gripp Karen W.,
Hardan Antonio Y.,
KepplerNoreuil Kim M.,
Kerr Bronwyn,
Korf Bruce,
Leoni Chiara,
McCormick Frank,
Plotkin Scott R.,
Rauen Katherine A.,
Reilly Karlyne,
Roberts Amy,
Sandler Abby,
Siegel Dawn,
Walsh Karin,
Widemann Brigitte C.
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37723
Subject(s) - costello syndrome , noonan syndrome , neurofibromatosis , mapk/erk pathway , medicine , neurofibromatosis type i , endocrinology , genetics , biology , gene , mutation , pathology , kinase , kras
The RASopathies are a group of disorders due to variations of genes associated with the Ras/MAPK pathway. Some of the RASopathies include neurofibromatosis type 1 (NF1), Noonan syndrome, Noonan syndrome with multiple lentigines, cardiofaciocutaneous (CFC) syndrome, Costello syndrome, Legius syndrome, and capillary malformation–arteriovenous malformation (CM‐AVM) syndrome. In combination, the RASopathies are a frequent group of genetic disorders. This report summarizes the proceedings of the 4th International Symposium on Genetic Disorders of the Ras/MAPK pathway and highlights gaps in the field. © 2016 Wiley Periodicals, Inc.