{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:10:00Z","timestamp":1792152600308,"version":"4.4.0"},"reference-count":11,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2003,8,12]],"date-time":"2003-08-12T00:00:00Z","timestamp":1060646400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2003,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>X\u2010linked dominant chondrodysplasia punctata, (CDPX2\u2014MIM302960) also known as Conradi\u2013H\u00fcnermann\u2013Happle syndrome, is a rare form of skeletal dysplasia that affects the skeleton, skin, hair, and eyes. The disorder is caused by mutations within the emopamil binding protein (Ebp) that functions as a delta(8), delta(7) sterol isomerase in the cholesterol biosynthesis pathway. To date, over 40 separate mutations have been reported in the Ebp gene, <jats:italic>EBP<\/jats:italic>, with no obvious correlation between the molecular defects and the severity of the clinical phenotype. We have studied a 30\u2010year\u2010old woman who presented in adulthood with skin, hair, and mild skeletal defects but no ocular abnormalities and have identified a heterozygous missense mutation within the third transmembrane domain of the protein. In addition, we have performed molecular prenatal testing on her unborn fetus. The results demonstrate inter\u2010familial variability for missense mutations within the emopamil binding protein and add to the molecular data for CDPX2. Copyright \u00a9 2003 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/pd.667","type":"journal-article","created":{"date-parts":[[2003,9,11]],"date-time":"2003-09-11T09:22:05Z","timestamp":1063272125000},"page":"701-704","source":"Crossref","is-referenced-by-count":12,"title":["Molecular prenatal diagnosis in a case of an X\u2010linked dominant chondrodysplasia punctata"],"prefix":"10.1002","volume":"23","author":[{"given":"N. V.","family":"Whittock","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L.","family":"Izatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. L.","family":"Simpson\u2010Dent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Becker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S. 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