{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,16]],"date-time":"2026-04-16T14:04:46Z","timestamp":1776348286061,"version":"3.51.2"},"reference-count":10,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2018,3,14]],"date-time":"2018-03-14T00:00:00Z","timestamp":1520985600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["UMO\u20102011\/03\/N\/NZ2\/00516"],"award-info":[{"award-number":["UMO\u20102011\/03\/N\/NZ2\/00516"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["2015\/19\/B\/NZ2\/01824"],"award-info":[{"award-number":["2015\/19\/B\/NZ2\/01824"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004281","name":"Narodowe Centrum Nauki","doi-asserted-by":"publisher","award":["CMHI S140\/2014"],"award-info":[{"award-number":["CMHI S140\/2014"]}],"id":[{"id":"10.13039\/501100004281","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:p>We expand the Kosaki overgrowth syndrome (KOGS) phenotype by over 70% to include 24 unreported KOGS symptoms, in a first male patient, the third overall associated with the <jats:italic>PDGFRB<\/jats:italic> c.1751C&gt;G p.(Pro584Arg) mutation. Eighteen of these symptoms are unique to our patient, the remaining six are shared with other patients. Of the 24 unreported features overall, 6 show marked phenotype evolution and varying time of onset. The triangular face detected at 14 months and long palpebral fissures with lateral ectropion at 4 years are present in other members of the cohort. The remaining 4 are unique to Patient 5: pronounced macrocephaly from birth, increasingly triangular anterior skull from 14 months, camptodactyly, emerging at 4 years and worsening joint contractures from 6 years. Compilation of all new symptoms reported here with published clinical data further identifies at least 18 clinical parameters common to all cases to date, encompassing both known KOGS\u2010associated <jats:italic>PDGFRB<\/jats:italic> mutations. We therefore propose a set of 18 core KOGS symptoms, with 16 present in early childhood. These results should also impact diagnostic\/prognostic scope, intervention and outcome potential for KOGS patients, particularly for developmentally progressive conditions such as scoliosis and myofibroma.<\/jats:p>","DOI":"10.1111\/cge.13192","type":"journal-article","created":{"date-parts":[[2017,12,11]],"date-time":"2017-12-11T11:44:58Z","timestamp":1512992698000},"page":"919-924","source":"Crossref","is-referenced-by-count":25,"title":["Phenotype expansion and development in Kosaki overgrowth syndrome"],"prefix":"10.1111","volume":"93","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3672-5834","authenticated-orcid":false,"given":"P.","family":"Gawli\u0144ski","sequence":"first","affiliation":[{"name":"Department of Medical Genetics Institute of Mother and Child  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Pelc","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics The Children's Memorial Health Institute  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