{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:46:36Z","timestamp":1762004796293},"reference-count":13,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2016,3,21]],"date-time":"2016-03-21T00:00:00Z","timestamp":1458518400000},"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":[[2016,6]]},"abstract":"<jats:sec><jats:label \/><jats:p>We report a case of a female child who has classical Freeman\u2013Sheldon syndrome (FSS) associated with a previously reported recurrent pathogenic heterozygous missense mutation, c.2015G\u2009&gt;\u2009A, p. (Arg672His), in <jats:italic>MYH3<\/jats:italic> where the phenotypically normal mother is a molecularly confirmed mosaic. To the best of our knowledge, this is the first report in the medical literature of molecularly confirmed parental mosaicism for a <jats:italic>MYH3<\/jats:italic> mutation causing FSS. Since proven somatic mosaicism after having an affected child is consistent with gonadal mosaicism, a significantly increased recurrence risk is advised. Parental testing is thus essential for accurate risk assessment for future pregnancies and the use of new technologies with next generation sequencing (NGS) may improve the detection rate of mosaicism. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37631","type":"journal-article","created":{"date-parts":[[2016,3,21]],"date-time":"2016-03-21T09:52:44Z","timestamp":1458553964000},"page":"1608-1612","source":"Crossref","is-referenced-by-count":9,"title":["Molecularly proven mosaicism in phenotypically normal parent of a girl with Freeman\u2013Sheldon Syndrome caused by a pathogenic <i>MYH3<\/i> mutation"],"prefix":"10.1002","volume":"170","author":[{"given":"Jennifer","family":"Hague","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Isabelle","family":"Delon","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kim","family":"Brugger","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Howard","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge United Kingdom"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen","family":"Abbs","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Cambridge University Hospitals NHS Foundation Trust Cambridge United 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