{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T07:23:30Z","timestamp":1791271410907,"version":"4.1.0"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2003,5,15]],"date-time":"2003-05-15T00:00:00Z","timestamp":1052956800000},"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":[[2003,9,15]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Type I Waardenburg syndrome (WS\u2010I) is an auditory\u2010pigmentary syndrome caused by heterozygous loss of function mutations in the\n                    <jats:italic>PAX3<\/jats:italic>\n                    gene. Klein\u2013Waardenburg syndrome (WS\u2010III) is a very rare condition and represents an extreme presentation of WS\u2010I, additionally associated with musculoskeletal abnormalities. We present an 18\u2010months old Turkish child with typical Klein\u2013Waardenburg syndrome (WS) including dystopia canthorum, partial albinism, and upper\u2010limb defects. The child was born to a consanguineous couple and both parents had WS\u2010I. We screened the entire coding region of the\n                    <jats:italic>PAX3<\/jats:italic>\n                    gene for mutations and identified a novel missense mutation, Y90H, within the paired box domain of\n                    <jats:italic>PAX3<\/jats:italic>\n                    . Both parents were heterozygous for the mutation and the proposita was homozygous. This is the third report of a homozygous\n                    <jats:italic>PAX3<\/jats:italic>\n                    mutation causing the WS\u2010III phenotype. Molecular analysis of four additional Turkish families with variable clinical expression of WS\u2010I identified two missense mutations, one splice\u2010site mutation, and one small insertion in the\n                    <jats:italic>PAX3<\/jats:italic>\n                    gene. \u00a9 2003 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.20260","type":"journal-article","created":{"date-parts":[[2003,8,26]],"date-time":"2003-08-26T11:23:58Z","timestamp":1061897038000},"page":"42-45","source":"Crossref","is-referenced-by-count":74,"title":["Homozygous and heterozygous inheritance of\n                    <i>PAX3<\/i>\n                    mutations causes different types of Waardenburg syndrome"],"prefix":"10.1002","volume":"122A","author":[{"given":"Bernd","family":"Wollnik","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Turgut","family":"Tukel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Oya","family":"Uyguner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Asadollah","family":"Ghanbari","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hulya","family":"Kayserili","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melike","family":"Emiroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Memnune","family":"Yuksel\u2010Apak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2003,5,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320590227"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/355637a0"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320580205"},{"key":"e_1_2_5_5_1","first-page":"256","article-title":"Waardenburg 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