{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T19:07:45Z","timestamp":1761764865528},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,11,21]],"date-time":"2005-11-21T00:00:00Z","timestamp":1132531200000},"content-version":"vor","delay-in-days":5073,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report the prenatal diagnosis of a male fetus with X\u2010linked recessive chondrodysplasia punctata (CDPX), steroid sulphatase (STS) deficiency, X\u2010linked Kallmann syndrome (KAL), and a chromosome deletion at Xp22.31. Biochemical analysis of bone from this case indicates that CDPX is not a defect of vitamin K metabolism. Immunocytochemical study of the brain suggests that KAL is a defect in neuronal migration.<\/jats:p>","DOI":"10.1002\/pd.1970120104","type":"journal-article","created":{"date-parts":[[2007,3,4]],"date-time":"2007-03-04T05:52:27Z","timestamp":1172987547000},"page":"19-29","source":"Crossref","is-referenced-by-count":26,"title":["Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion"],"prefix":"10.1002","volume":"12","author":[{"given":"David P.","family":"Bick","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Daniel F.","family":"Schorderet","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul A.","family":"Price","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie","family":"Campbell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robert W.","family":"Huff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Larry J.","family":"Shapiro","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charleen M.","family":"Moore","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,11,21]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.24.10001"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1017\/S031716710002610X"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330114"},{"key":"e_1_2_1_5_1","first-page":"962","article-title":"Mapping chondrodysplasia punctata, ichthyosis, Kallmann syndrome and DNA markers in male patients with Xp chromosome deletions","volume":"51","author":"Bick D. 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