{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:26:27Z","timestamp":1786976787424,"version":"build-2736575974"},"reference-count":16,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4130,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Mosiac skin lesions following the lines of Blaschko are found in boys affected by incontinentia pigmenti (IP). For an X\u2010linked gene defect, this is rather surprising. To explain the mosaic disease expression of IP in males, we propose that the disease is caused by an unstable pre\u2010mutation, which normally remains silent in males during early embryogenesis. Occasionally \u201csilencing\u201d is incomplete and gives rise to clinical manifest IP reflecting a mosaic state of alleles with the full and the pre\u2010mutation in the same patient. This model can account for mother\u2010to\u2010son transmission of IP and for disparate phenotypes in monozygotic female twins. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320490409","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T12:57:00Z","timestamp":1118494620000},"page":"397-398","source":"Crossref","is-referenced-by-count":22,"title":["Unstable pre\u2010mutation may explain mosaic disease expression of incontinentia pigmenti in males"],"prefix":"10.1002","volume":"49","author":[{"given":"Heiko","family":"Traupe","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Karl\u2010Heinz","family":"Vehring","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0190-9622(93)70198-3"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90283-5"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1990.tb03561.x"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273442"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01374.x"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.19.6.447"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1982.tb01448.x"},{"key":"e_1_2_1_9_1","first-page":"690","article-title":"Half chromatid mutations may explain incontinentia pigmenti in males","volume":"27","author":"Lenz W","year":"1975","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(89)70114-6"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0693-143"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(89)90350-9"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0140-6736(91)90426-P"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.2340\/0001555570267268","article-title":"Incontinentia pigmenti in identical twins with separate skin and neurological disorders","volume":"70","author":"Tanaka R","year":"1990","journal-title":"Acta Dermatol Venereol"},{"key":"e_1_2_1_15_1","first-page":"726","article-title":"Incontinentia pigmenti bei einem S\u00e4ugling","volume":"44","author":"Vehring K\u2010H","year":"1993","journal-title":"Hautarzt"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289472"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng0693-140"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320490409","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320490409","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T21:57:43Z","timestamp":1698098263000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320490409"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,2,15]]},"references-count":16,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1994,2,15]]}},"alternative-id":["10.1002\/ajmg.1320490409"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320490409","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,2,15]]}}}