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We report on Aarskog\u2013Scott syndrome in male dizygotic twins with an identical <jats:italic>de novo<\/jats:italic> mutation in <jats:italic>FGD1<\/jats:italic> that resulted from germline mosaicism in the phenotypically normal mother. This is the first report of inheritance by germline mosaicism for the <jats:italic>FGD1<\/jats:italic> gene. \u00a9 2011 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.34094","type":"journal-article","created":{"date-parts":[[2011,7,7]],"date-time":"2011-07-07T19:59:39Z","timestamp":1310068779000},"page":"1987-1990","source":"Crossref","is-referenced-by-count":11,"title":["Fraternal twins with Aarskog\u2013Scott syndrome due to maternal germline mosaicism"],"prefix":"10.1002","volume":"155","author":[{"given":"Laura","family":"Pilozzi\u2010Edmonds","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thomas A.","family":"Maher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Raveen 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