{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,23]],"date-time":"2026-08-23T17:32:22Z","timestamp":1787506342140,"version":"build-2736575974"},"reference-count":25,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,3,22]],"date-time":"2017-03-22T00:00:00Z","timestamp":1490140800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2017,4]]},"abstract":"<jats:sec>\n                    <jats:label\/>\n                    <jats:p>\n                      De novo germline mutations in HRAS cause Costello syndrome, with &gt;95% of the mutations causing Costello syndrome affecting amino acid position 12 (p.Gly12) or 13 (p.Gly13). We report on a patient with de novo missense mutation causing an amino acid change at codon 146 of\n                      <jats:italic>HRAS<\/jats:italic>\n                      , c.436G\u2009&gt;\u2009C:p.Ala146Pro, who presented with subtle dysmorphic features, failure to thrive, global developmental delay, and hypertrophic obstructive cardiomyopathy. Mutations affecting codon 146 are observed in &lt;1% of patients with Costello syndrome. From literature search, there were only two other patients reported with mutations involving the same location. We summarized and updated their findings, and discussed evidence to show that these patients with less obvious signs of Costello syndrome may not necessarily run a more benign clinical course.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ajmg.a.38118","type":"journal-article","created":{"date-parts":[[2017,3,23]],"date-time":"2017-03-23T01:24:33Z","timestamp":1490232273000},"page":"1109-1114","source":"Crossref","is-referenced-by-count":10,"title":["A novel patient with an attenuated Costello syndrome phenotype due to an\n                    <i>HRAS<\/i>\n                    mutation affecting codon 146\u2014Literature review and update"],"prefix":"10.1002","volume":"173","author":[{"given":"Annie Ting Gee","family":"Chiu","sequence":"first","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gordon Ka\u2010Chun","family":"Leung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoyo Wing\u2010Yiu","family":"Chu","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karen W.","family":"Gripp","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics A.l. duPont Hospital for Children Wilmington Delaware"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian Hon\u2010Yin","family":"Chung","sequence":"additional","affiliation":[{"name":"Department of Paediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong Kong Hong Kong China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,3,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.bjc.6601894"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13052-015-0209-4"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36047"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddp548"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33391"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33884"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32227"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30100"},{"key":"e_1_2_5_11_1","volume-title":"GeneReviews(R) [Internet]","author":"Gripp K. 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