Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

doi:10.1002/ajmg.a.61485

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Article

Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

American journal of medical genetics. Part A - 1 Apr 2020

Gross Andrea M, Frone Megan, Gripp Karen W, Gelb Bruce D, Schoyer Lisa, Schill Lisa, Stronach Beth, Biesecker Leslie G, Esposito Dominic, Hernandez Edjay Ralph, Legius Eric, Loh Mignon L, Martin Staci, Morrison Deborah K, Rauen Katherine A, Wolters Pamela L, Zand Dina, McCormick Frank, Savage Sharon A, Stewart Douglas R, Widemann Brigitte C, Yohe Marielle E

Abstract excerpt

RASopathies caused by germline pathogenic variants in genes that encode RAS pathway proteins. These disorders include neurofibromatosis type 1 (NF1), Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), and Costello syndrome (CS), and others. RASopathies are characterized by heterogenous manifestations, including congenital heart disease, failure to thrive, and increased risk of cancers. Previous work led...

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PMID: 31913576
DOI: 10.1002/ajmg.a.61485
PMCID: PMC7456498

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