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Although he had no clinico\u2010radiological features of X\u2010linked recessive chondrodysplasia punctata (<jats:italic>CDPX1<\/jats:italic>), molecular studies revealed an Xp terminal deletion involving the putative region for the <jats:italic>CDPX1<\/jats:italic> locus (<jats:italic>PABX<\/jats:italic>\u2010<jats:italic>DXS31<\/jats:italic>). We suspect that the absence of <jats:italic>CDPX1<\/jats:italic> may be attributable to the nature of the disease and the extreme short stature of the patient (mean \u2013 5.6 S.D.). \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450124","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:21:25Z","timestamp":1118506885000},"page":"101-104","source":"Crossref","is-referenced-by-count":7,"title":["Absent chondrodysplasia punctata in a male with an Xp terminal deletion involving the putative region for CDPX1 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