{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,21]],"date-time":"2026-03-21T18:58:39Z","timestamp":1774119519623,"version":"3.50.1"},"reference-count":46,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,2,11]],"date-time":"2004-02-11T00:00:00Z","timestamp":1076457600000},"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":[[2004,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hermansky\u2013Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by oculocutaneous albinism and a platelet storage pool deficiency. Some patients also develop fatal pulmonary fibrosis and some have granulomatous colitis. Six human genes <jats:italic>HPS1<\/jats:italic>, <jats:italic>ADB3A<\/jats:italic>, <jats:italic>HPS3<\/jats:italic>, <jats:italic>HPS4<\/jats:italic>, <jats:italic>HPS5<\/jats:italic>, and <jats:italic>HPS6<\/jats:italic> have been identified as cause of the six known subtypes of HPS. While there exist nearly 500 Puerto Rican and non\u2010Puerto Rican HPS\u20101 patients, very few HPS\u20104 patients have been reported, and most of these have not been described in detail. We now delineate the clinical characteristics of an HPS\u20104 patient homozygous for a novel HPS\u20104 mutation, P685delC. The patient, the first individual with HPS reported from Sri Lanka, had severe pulmonary fibrosis, typical of HPS\u20101 disease, without granulomatous colitis. We conclude that pulmonary fibrosis occurs as part of HPS\u20104 and that HPS should be considered in all ethnic groups. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20683","type":"journal-article","created":{"date-parts":[[2004,4,20]],"date-time":"2004-04-20T18:02:12Z","timestamp":1082484132000},"page":"201-207","source":"Crossref","is-referenced-by-count":36,"title":["Hermansky\u2013Pudlak syndrome type 4 in a patient from Sri Lanka with pulmonary fibrosis"],"prefix":"10.1002","volume":"127A","author":[{"given":"Esther B.","family":"Bachli","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Brack","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elisabeth","family":"Eppler","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Stallmach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralph M.","family":"Tr\u00fceb","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marjan","family":"Huizing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William A.","family":"Gahl","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,2,11]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1007\/s00439-003-0933-5","article-title":"Hermansky\u2013Pudlak syndrome type\u20104 (HPS\u20104): Clinical and molecular characteristics","volume":"113","author":"Anderson PD","year":"2003","journal-title":"Hum Genet"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng576"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.117.1.129"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M300090200"},{"issue":"178","key":"e_1_2_5_6_1","first-page":"219","article-title":"Familial pulmonary fibrosis associated with oculocutaneous albinism and platelet function defect. 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