{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,10]],"date-time":"2026-09-10T05:46:06Z","timestamp":1789019166387,"version":"build-2803163510"},"reference-count":38,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T00:00:00Z","timestamp":1573084800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    RASopathies are a group of phenotypically overlapping disorders that arise from dysregulation of the RAS\/MAPK pathway. These disorders include Noonan syndrome, Costello syndrome, cardiofaciocutaneous syndrome, and neurofibromatosis\u2010Type 1. While somatic mutations in the three human Ras genes (\n                    <jats:italic>KRAS<\/jats:italic>\n                    ,\n                    <jats:italic>HRAS<\/jats:italic>\n                    , and\n                    <jats:italic>NRAS<\/jats:italic>\n                    ) are a common finding in a variety of cancers, germline mutations in each of the these genes cause developmental RASopathy phenotypes with mutations in specific genes typically correlating with specific phenotypes. We present the case of a germline heterozygous\n                    <jats:italic>NRAS<\/jats:italic>\n                    mutation producing a severe phenotype involving embryonal rhabdomyosarcoma, severe intellectual disability, and numerous melanocytic nevi in addition to more typical manifestations of Noonan syndrome. Additionally, the specific p.G12R\n                    <jats:italic>NRAS<\/jats:italic>\n                    mutation in this case is a common somatic mutation in cancer cells, and analysis of previously reported\n                    <jats:italic>NRAS<\/jats:italic>\n                    \u2010RASopathy cases suggests that mutations at traditionally oncogenic codons are associated with elevated cancer risk not present with mutations at other sites.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.61395","type":"journal-article","created":{"date-parts":[[2019,11,7]],"date-time":"2019-11-07T07:00:41Z","timestamp":1573110041000},"page":"195-200","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["NRAS associated RASopathy and embryonal rhabdomyosarcoma"],"prefix":"10.1002","volume":"182","author":[{"given":"Benjamin","family":"Garren","sequence":"first","affiliation":[{"name":"Department of Pediatrics Madigan Army Medical Center  Tacoma Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark","family":"Stephan","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Madigan Army Medical Center  Tacoma Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0435-5197","authenticated-orcid":false,"given":"Jacob S.","family":"Hogue","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Madigan Army Medical Center  Tacoma Washington"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,11,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2017.65"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.17404"},{"issue":"17","key":"e_1_2_7_5_1","first-page":"4682","article-title":"ras oncogenes in human cancer: A review","volume":"49","author":"Bos J. 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