{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,17]],"date-time":"2026-09-17T21:03:41Z","timestamp":1789679021478,"version":"4.0.1"},"reference-count":10,"publisher":"BMJ","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2008,3]]},"abstract":"<jats:sec>\n                  <jats:title>Background:<\/jats:title>\n                  <jats:p>Costello syndrome (CS) is due to mutations in <jats:italic>HRAS<\/jats:italic>, with the most common mutation being c.34G&gt;A (p.G12S), found in most patients in all the published series. A small number of less common mutations have been reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Population studied:<\/jats:title>\n                  <jats:p>HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS. A HRAS mutation was found in 27 patients, 15 of whom have been previously reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Phenotype analysis:<\/jats:title>\n                  <jats:p>Four cases had an unusually severe phenotype, associated in three cases with two unusual mutations, c.35G&gt;A, p.G12D in two cases and c.34G&gt;T, p.G12C in the other. Hypoglycaemia, renal abnormalities, severe early cardiomyopathy, congenital lung and airway abnormalities, pleural and pericardial effusion, chylous ascites and pulmonary lymphangectasia are confirmed as part of the clinical spectrum seen in CS. A lung pathology resembling alveolar capillary dysplasia is reported in one case.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Conclusion:<\/jats:title>\n                  <jats:p>These cases illustrate that the diagnosis of CS may be difficult in the newborn period, and should be considered in the differential diagnosis of the sick newborn infant with multisystem disease. Study of more cases will be required to establish if there is a definite association between severe disease and less common mutations.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1136\/jmg.2007.054411","type":"journal-article","created":{"date-parts":[[2007,11,26]],"date-time":"2007-11-26T23:58:38Z","timestamp":1196121518000},"page":"167-171","source":"Crossref","is-referenced-by-count":59,"title":["Severe neonatal manifestations of Costello syndrome"],"prefix":"10.1136","volume":"45","author":[{"given":"I F M","family":"Lo","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C","family":"Brewer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N","family":"Shannon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J","family":"Shorto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Tang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G","family":"Black","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M T","family":"Soo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D K K","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S T S","family":"Lam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B","family":"Kerr","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2007,11,26]]},"reference":[{"key":"2025100521052910000_45.3.167.1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1641"},{"key":"2025100521052910000_45.3.167.2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2005.040352"},{"key":"2025100521052910000_45.3.167.3","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-005-0124-8"},{"key":"2025100521052910000_45.3.167.4","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1002\/ajmg.a.31047","article-title":"HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.","volume":"140A","author":"Gripp","year":"2006","journal-title":"Am J Med Genet"},{"key":"2025100521052910000_45.3.167.5","doi-asserted-by":"crossref","first-page":"8","DOI":"10.1002\/ajmg.a.31078","article-title":"HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codons 12 and 13 and loss of wild type allele in malignancy.","volume":"140A","author":"Estep","year":"2006","journal-title":"Am J Med Genet"},{"key":"2025100521052910000_45.3.167.6","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20393"},{"key":"2025100521052910000_45.3.167.7","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0625.2006.00474.x"},{"key":"2025100521052910000_45.3.167.8","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.049270"},{"key":"2025100521052910000_45.3.167.9","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.13.4008"},{"key":"2025100521052910000_45.3.167.10","doi-asserted-by":"crossref","first-page":"2163","DOI":"10.1002\/ajmg.a.31456","article-title":"Somatic mosaicism for an HRAS mutation causes Costello syndrome.","volume":"40","author":"Gripp","year":"2006","journal-title":"Am J Med Genet A"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.2007.054411","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T04:05:39Z","timestamp":1759723539000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.2007.054411"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,11,26]]},"references-count":10,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2008,2,29]]},"published-print":{"date-parts":[[2008,3]]}},"alternative-id":["10.1136\/jmg.2007.054411"],"URL":"https:\/\/doi.org\/10.1136\/jmg.2007.054411","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,11,26]]}}}