{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,9]],"date-time":"2025-11-09T07:45:02Z","timestamp":1762674302080,"version":"3.40.5"},"reference-count":27,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T00:00:00Z","timestamp":1559174400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100002850","name":"FONDECYT","doi-asserted-by":"publisher","award":["1140450"],"award-info":[{"award-number":["1140450"]}],"id":[{"id":"10.13039\/501100002850","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the case of a 14\u2009years and 8\u2009months girl, who is the first child of nonconsanguineous parents, with short stature, obstructive hypertrophic cardiomyopathy, multiple facial lentigines, high and wide forehead, downslanting palpebral fissures, low\u2010set ears, short neck, and pectus excavatum; all features suggestive of Noonan syndrome with multiple lentigines (NSML). In addition, the patient exhibited craniosynostosis. Molecular analysis of rats sarcoma (RAS)\/mitogen\u2010activated protein kinase (MAPK) pathway genes with high\u2010resolution melting curve analysis followed by sequencing showed a <jats:italic>RAF1<\/jats:italic> amino acid substitution of valine to glycine at position 263 (p.V263G). The present report provides clinical data regarding the first association of a <jats:italic>RAF1<\/jats:italic> variant and craniosynostosis in a patient with clinical diagnosis of NSML.<\/jats:p>","DOI":"10.1002\/ajmg.a.61203","type":"journal-article","created":{"date-parts":[[2019,5,30]],"date-time":"2019-05-30T13:53:45Z","timestamp":1559224425000},"page":"1598-1602","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":16,"title":["<i>RAF1<\/i> variant in a patient with Noonan syndrome with multiple lentigines and craniosynostosis"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0461-7393","authenticated-orcid":false,"given":"Fernando","family":"Rodr\u00edguez","sequence":"first","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine, University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Diana","family":"Ponce","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine, University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francisco J.","family":"Berward","sequence":"additional","affiliation":[{"name":"Department of Neurosurgery, Unit of Neuro Oncology Clinica Las Condes  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernardita","family":"Lopetegui","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Children's Surgery Hospital Luis Calvo Mackenna, School of Medicine, University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"Cassorla","sequence":"additional","affiliation":[{"name":"Institute of Maternal and Child Research School of Medicine, University of Chile  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mariana","family":"Aracena","sequence":"additional","affiliation":[{"name":"Division of Pediatrics School of Medicine  Pontificia Universidad Cat\u00f3lica de Chile, Santiago, Chile"},{"name":"Unit of Genetics Hospital Luis Calvo Mackenna  Santiago Chile"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,5,30]]},"reference":[{"doi-asserted-by":"publisher","key":"e_1_2_6_2_1","DOI":"10.1002\/ajmg.a.37259"},{"key":"e_1_2_6_3_1","first-page":"364","article-title":"Anthropometric growth curves in Chilean newborns","volume":"79","author":"Alarc\u00f3n J.","year":"2008","journal-title":"Revista Chilena de Pediatr\u00eda"},{"doi-asserted-by":"publisher","key":"e_1_2_6_4_1","DOI":"10.1038\/jhg.2015.114"},{"volume-title":"Craniosynostosis: Diagnosis, evaluation and management","year":"2000","author":"Cohen M. 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