{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T23:30:28Z","timestamp":1790811028038,"version":"4.1.0"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2017,10,20]],"date-time":"2017-10-20T00:00:00Z","timestamp":1508457600000},"content-version":"vor","delay-in-days":292,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pigment Cell Melanoma Res"],"published-print":{"date-parts":[[2017,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Hermansky\u2013Pudlak syndrome (HPS), first described in 1959, is a rare form of syndromic oculocutaneous albinism associated with bleeding diathesis and in some cases pulmonary fibrosis and granulomatous colitis. All 10 HPS types are caused by defects in vesicle trafficking of lysosome\u2010related organelles (LRO) proteins. The HPS5 protein associates with HPS3 and HPS6 to form the biogenesis of lysosome\u2010related organelles complex\u20102 (BLOC\u20102). Here, we report the clinical and genetic data of 11 patients with HPS\u20105 analyzed in our laboratory. We report 11 new pathogenic variants. The 11 patients present with ocular features that are typical for albinism, with mild hypopigmentation, and with no other major complication, apart from a tendency to bleed. HPS\u20105 therefore appears as a mild form of HPS, which is often clinically undistinguishable from mild oculocutaneous or ocular forms of albinism. Molecular analysis is therefore required to establish the diagnosis of this mild HPS form, which has consequences in terms of prognosis and of clinical management of the patients.<\/jats:p>","DOI":"10.1111\/pcmr.12608","type":"journal-article","created":{"date-parts":[[2017,6,22]],"date-time":"2017-06-22T17:02:41Z","timestamp":1498150961000},"page":"563-570","source":"Crossref","is-referenced-by-count":17,"title":["Clinico\u2010molecular analysis of eleven patients with Hermansky\u2013Pudlak type 5 syndrome, a mild form of <scp>HPS<\/scp>"],"prefix":"10.1111","volume":"30","author":[{"given":"Vincent","family":"Michaud","sequence":"first","affiliation":[{"name":"Service G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux  Bordeaux France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eulalie","family":"Lasseaux","sequence":"additional","affiliation":[{"name":"Service G\u00e9n\u00e9tique M\u00e9dicale CHU de Bordeaux  Bordeaux 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