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CDPX2 results from mutation of an X\u2010linked gene coding for sterol\u2010\u0394<jats:sup>8<\/jats:sup>\u2010\u0394<jats:sup>7<\/jats:sup> isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to arise usually secondary to functional mosaicism in females). Biochemical and molecular studies demonstrate that he is mosaic for a sterol\u2010\u0394<jats:sup>8<\/jats:sup>\u2010\u0394<jats:sup>7<\/jats:sup> isomerase gene mutation. He is the first reported example of single gene mosaicism giving rise to CDPX2 in a male. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.10852","type":"journal-article","created":{"date-parts":[[2002,12,28]],"date-time":"2002-12-28T17:02:21Z","timestamp":1041094941000},"page":"255-260","source":"Crossref","is-referenced-by-count":52,"title":["X\u2010linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male"],"prefix":"10.1002","volume":"116A","author":[{"given":"David J.","family":"Aughton","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard 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