{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:30:03Z","timestamp":1762003803277},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4067,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1994,4,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on 2 related children, a boy and a girl, from a large Turkish clan. Their parents are both first cousins and have several common ancestors. Both children have tyrosinase\u2010positive oculocutaneous albinism, recurrent bacterial infections, granulocytopenia, intermittent thrombopenia, and microcephaly, a protruding midface, rough and projecting hair, and mild mental retardation. Chromosomes are normal. Metabolic disorders were excluded.<\/jats:p><jats:p>None of 14 well\u2010known types of albinism, including Hermansky\u2010Pudlak syndrome and Chediak\u2010Higashi syndrome, nor any other genetic syndrome, characterizes our patients sufficiently. Thus, this combination of symptoms is considered a new autosomal recessive syndrome. \u00a9 1994 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320500303","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T17:06:51Z","timestamp":1118509611000},"page":"224-227","source":"Crossref","is-referenced-by-count":27,"title":["Oculocutaneous albinism, immunodeficiency, hematological disorders, and minor anomalies: A new autosomal recessive syndrome?"],"prefix":"10.1002","volume":"50","author":[{"given":"Dieter","family":"Kotzot","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konrad","family":"Richter","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kornelia","family":"Gierth\u2010Fiebig","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"128","article-title":"Syndrome familiar de microcefalia con albinismo oculocutaneo y anomalias digitales","volume":"19","author":"Castro\u2010Gago M","year":"1983","journal-title":"Ann Esp Pediat"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02840.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90858-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.69.12.904"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816819009015712"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.2.118"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200410"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9343(88)80028-7"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320332"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00695079"},{"key":"e_1_2_1_12_1","first-page":"151","article-title":"The Chediak\u2010Higashi syndrome: the nature of the giant neutrophil granules and their interactions with cytoplasm and foreign particulates","volume":"98","author":"White JG","year":"1980","journal-title":"Am J Pathol"},{"key":"e_1_2_1_13_1","first-page":"2905","volume-title":"The Metabolic Basis of Inherited Disease","author":"Witkop CJ","year":"1989"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320500303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320500303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T23:36:11Z","timestamp":1698104171000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320500303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,4,15]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1994,4,15]]}},"alternative-id":["10.1002\/ajmg.1320500303"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320500303","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,4,15]]}}}