{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T02:05:55Z","timestamp":1792807555427,"version":"4.5.0"},"reference-count":15,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2021,2,4]],"date-time":"2021-02-04T00:00:00Z","timestamp":1612396800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["(#31830054"],"award-info":[{"award-number":["(#31830054"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["#81472871)"],"award-info":[{"award-number":["#81472871)"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["The Journal of Dermatology"],"published-print":{"date-parts":[[2021,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Hermansky\u2010Pudlak syndrome 9 (HPS\u20109) is a recessive disorder caused by <jats:italic>BLOC1S6<\/jats:italic> gene. There are only four variants identified from four HPS\u20109 patients so far. Here, we reported the first HPS\u20109 patient in a Chinese population. He had brownish\u2010yellow hair, white skin, brown irises with visual acuity, photophobia and nystagmus. Two novel variants, c.148G&gt;T (p.Glu50*) and c.351dupT (p.Ile118Tyrfs*10) in <jats:italic>BLOC1S6<\/jats:italic> gene were identified by whole\u2010exome sequencing (WES). Absence of platelet dense granules was found by whole\u2010mount platelet electron microscopy and Western blotting assays showed the destabilized BLOC\u20101 subunits. He had recurrent bruising and was found to have abnormal brain waves by electroencephalogram, but did not develop thrombopenia, immunodeficiency or other symptoms reported in other HPS\u20109 patients. This is the first case report of BLOC\u20101 mutation in a Chinese population and our findings expand the mutational spectrum of HPS genes.<\/jats:p>","DOI":"10.1111\/1346-8138.15762","type":"journal-article","created":{"date-parts":[[2021,2,8]],"date-time":"2021-02-08T03:21:38Z","timestamp":1612754498000},"page":"676-680","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["The first Hermansky\u2013Pudlak syndrome type 9 patient with two novel variants in Chinese population"],"prefix":"10.1111","volume":"48","author":[{"given":"Teng","family":"Liu","sequence":"first","affiliation":[{"name":"Department of Dermatology Beijing Tongren Hospital Capital Medical University Beijing China"},{"name":"Shunyi Women and Children\u2019s Hospital of Beijing Children\u2019s Hospital Beijing 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