The sixth international RASopathies symposium: Precision medicine—From promise to practice

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The sixth international RASopathies symposium: Precision medicine—From promise to practice
 
Gripp, Karen W.; Schill, Lisa; Schoyer, Lisa; Stronach, Beth; Bennett, Anton M.; Blaser, Susan; Brown, Amanda; Burdine, Rebecca; Burkitt-Wright, Emma; Castel, Pau; Darilek, Sandra; Dias, Alwyn; Dyer, Tuesdi; Ellis, Michelle; Erickson, Gregg; Gelb, Bruce D.; Green, Tamar; Gross, Andrea; Ho, Alan; Holder, James Lloyd; Inoue, Shin Ichi; Jelin, Angie C.; Kennedy, Annie; Klein, Richard; Kontaridis, Maria I.; Magoulas, Pilar; McConnell, Darryl B.; McCormick, Frank; Neel, Benjamin G.; Prada, Carlos E.; Rauen, Katherine A.; Roberts, Amy; Rodriguez-Viciana, Pablo; Rosen, Neal; Rumbaugh, Gavin; Sablina, Anna; Solman, Maja; Tartaglia, Marco; Thomas, Angelica; Timmer, William C.; Venkatachalam, Kartik; Walsh, Karin S.; Wolters, Pamela L.; Yi, Jae Sung; Zenker, Martin; Ratner, Nancy
(2020) American Journal of Medical Genetics, Part A, volume 182, issue 3, pp. 597 - 606
(Article)
Abstract
The RASopathies are a group of genetic disorders that result from germline pathogenic variants affecting RAS-mitogen activated protein kinase (MAPK) pathway genes. RASopathies share RAS/MAPK pathway dysregulation and share phenotypic manifestations affecting numerous organ systems, causing lifelong and at times life-limiting medical complications. RASopathies may benefit from precision medicine approaches. ... read more
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Keywords: cardio-facio-cutaneous syndrome, Costello syndrome, kinases, neurofibromatosis, Noonan syndrome, RASopathy, Genetics, Genetics(clinical)
DOI: https://doi.org/10.1002/ajmg.a.61434
ISSN: 1552-4825
Publisher: John Wiley & Sons Inc.
Note: Funding Information: In addition to the NIH (1R13TR002780-01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Funding Information: In addition to the NIH (1R13TR002780‐01), the meeting was financially supported by an anonymous donor; the National Cancer Institute; IGIA pharmaceuticals; KURA oncology; Boehringer Ingelheim; Prevention Genetics; UAB School of Medicine; Children's Tumor Foundation; and International Costello Syndrome Support Group. Linda de Vries and David Chitayat contributed to planning the presentation given by Susan Blaser. Publisher Copyright: © 2019 Wiley Periodicals, Inc.
(Peer reviewed)