{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,8]],"date-time":"2026-11-08T00:24:50Z","timestamp":1794097490367,"version":"4.8.0"},"reference-count":37,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2008,5,28]],"date-time":"2008-05-28T00:00:00Z","timestamp":1211932800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2008,9]]},"abstract":"<jats:p>This study aimed to investigate genotype and phenotype in males affected with X\u2010linked hypohidrotic ectodermal dysplasia (HED) and in female carriers, to analyse a possible genotype\u2013phenotype correlation, and to analyse a possible relation between severity of the symptoms and the X\u2010chromosome inactivation pattern in female carriers. The study group comprised 67 patients from 19 families (24 affected males and 43 female carriers). All participants had clinical signs of ectodermal dysplasia and a disease\u2010causing <jats:italic>EDA <\/jats:italic>mutation. The <jats:italic>EDA <\/jats:italic>gene was screened for mutations by single\u2010stranded conformational polymorphism and direct sequencing. Multiplex ligation\u2010dependent probe amplification (MLPA) analysis was used to detect deletions\/duplications in female probands. Sixteen different <jats:italic>EDA <\/jats:italic>mutations were detected in the 19 families, nine not described previously. The MLPA analysis detected a deletion of exon 1 in one female proband. No genotype\u2013phenotype correlations were observed, and female carriers did not exhibit a skewed X\u2010chromosome inactivation pattern. However, in two female carriers with pronounced clinical symptoms, in whom the parental origin of each allele was known, we observed that mainly the normal allele was inactivated.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2008.01037.x","type":"journal-article","created":{"date-parts":[[2009,1,23]],"date-time":"2009-01-23T09:59:38Z","timestamp":1232704778000},"page":"252-259","source":"Crossref","is-referenced-by-count":54,"title":["X\u2010linked hypohidrotic ectodermal dysplasia. 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