{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T13:17:49Z","timestamp":1791206269578,"version":"4.1.0"},"reference-count":24,"publisher":"BMJ","issue":"6","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,6]]},"abstract":"<jats:p>We report a female infant born to a mother with incontinentia pigmenti (IP) and a father with haemophilia A, who manifests both disorders. Analysis of peripheral blood DNA from the infant, her mother, and two female relatives with IP showed a highly skewed pattern of X inactivation. Random patterns were observed in the infant's two sisters, who do not have IP and have normal carrier activity of factor VIII. Preferential inactivation of the X chromosome bearing the IP mutation, probably by negative selection, appears to have unmasked the factor VIII mutation on the infant's other X chromosome. This illustrates an unusual mechanism for the manifestation of an X linked disease in a heterozygous female.<\/jats:p>","DOI":"10.1136\/jmg.30.6.497","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"497-500","source":"Crossref","is-referenced-by-count":26,"title":["Interaction of incontinentia pigmenti and factor VIII mutations in a female with biased X inactivation, resulting in haemophilia."],"prefix":"10.1136","volume":"30","author":[{"given":"R","family":"Coleman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S A","family":"Genet","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J I","family":"Harper","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A O","family":"Wilkie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,6,1]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1001\/archderm.1976.01630280059017","article-title":"Incontinentia pigmenti; a world statistical analysis","volume":"112","author":"Carney, R.G.","year":"1976","unstructured":"Carney RG. Incontinentia pigmenti; a world statistical analysis. Arch Dermatol 1976;112:535-42.","journal-title":"Arch Dermatol"},{"key":"ref_2","article-title":"Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut","author":"Blashko, A.","year":"1901","unstructured":"Blashko A. Die Nervenverteilung in der Haut in ihrer Beziehung zu den Erkrankungen der Haut. Wien, Leipzig: Braumuller, 1901."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1111\/j.1399-0004.1985.tb00392.x","article-title":"X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance","volume":"28","author":"Wieacker, P.; Zimmer, J.; Ropers, H.H.","year":"1985","unstructured":"Wieacker P, Zimmer J, Ropers HH. X inactivation patterns in two syndromes with probable X-linked dominant, male lethal inheritance. 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