{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:06:08Z","timestamp":1761717968374},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,5,9]],"date-time":"2005-05-09T00:00:00Z","timestamp":1115596800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2005,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a newborn girl with incontinentia pigmenti (IP, MIM308300), unilateral acheiria, and fatal primary pulmonary hypertension. Limb deficiency has not been described previously in IP and pulmonary hypertension only on two previous occasions [Triki et al., <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib12\">1992<\/jats:ext-link>; Miteva et al., 2001]. A review of the cause of IP shows that these rare manifestations may not be unexpected, given the many roles of the underlying gene product. \u00a9 2005 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30698","type":"journal-article","created":{"date-parts":[[2005,5,9]],"date-time":"2005-05-09T23:17:09Z","timestamp":1115680629000},"page":"302-303","source":"Crossref","is-referenced-by-count":13,"title":["Unilateral acheiria and fatal primary pulmonary hypertension in a girl with incontinentia pigmenti"],"prefix":"10.1002","volume":"135A","author":[{"given":"Ian M.","family":"Hayes","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"George","family":"Varigos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edward J.","family":"Upjohn","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David C.","family":"Orchard","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dan J.","family":"Penny","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ravi","family":"Savarirayan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,5,9]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1067\/mjd.2002.125949"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/33435"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/jemt.10240"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1126\/stke.2000.58.pe1"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/rr57"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.114.3_Supplement.242S"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0887-8994(03)00150-4"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1995.02170180103019"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1177\/107424840400900i101"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-2999(03)01903-4"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/33276"},{"issue":"12","key":"e_1_2_4_13_1","first-page":"773","article-title":"Cerebral complications of incontinentia pigmenti. A clinicopathological study of a case","volume":"148","author":"Triki C","year":"1992","journal-title":"Rev Neurol"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6363(99)00230-8"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.114.3_Supplement.225S"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1124\/mol.64.4.923"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.30698","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.30698","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T18:55:51Z","timestamp":1697655351000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.30698"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,5,9]]},"references-count":15,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2005,6,15]]}},"alternative-id":["10.1002\/ajmg.a.30698"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.30698","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,5,9]]}}}