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dc.rights.licenseopenen_US
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorMICHAUD, Vincent
IDREF: 243713878
dc.contributor.authorFIORE, Mathieu
dc.contributor.authorCOSTE, Valentine
dc.contributor.authorHUGUENIN, Yoann
dc.contributor.authorBORDET, Jean-Claude
dc.contributor.authorPLAISANT, Claudio
dc.contributor.authorLASSEAUX, Eulalie
dc.contributor.authorMORICE-PICARD, Fanny
hal.structure.identifierLaboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM]
dc.contributor.authorARVEILER, Benoit
dc.date.accessioned2021-10-26T15:47:23Z
dc.date.available2021-10-26T15:47:23Z
dc.date.issued2021
dc.identifier.issn0953-7104 (print) 1369-1635 (online)en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/117091
dc.description.abstractEnHermansky-Pudlak syndrome (HPS) is a rare form of syndromic oculocutaneous albinism caused by disorders in lysosome-related organelles. Ten genes are associated with different forms of HPS. HPS type 9 (HPS-9) is caused by biallelic variants of BLOC1S6. To date, only three patients with HPS-9 have been reported. We described one patient presenting with ocular features of albinism. Genetic analysis revealed two compound heterozygous variants in the BLOC1S6 gene. Extended hematological studies confirmed the platelet storage pool disease with absence of dense granules and abnormal platelet aggregation. By reviewing the previous published cases we confirm the phenotype of HPS-9 patients. This patient is the only one described with dextrocardia and abnormal psychomotor development.
dc.language.isoENen_US
dc.subject.enAlbinism
dc.subject.enHermansky-Pudlak Syndrome
dc.title.enA new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies
dc.typeArticle de revueen_US
dc.identifier.doi10.1080/09537104.2020.1742315en_US
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologieen_US
bordeaux.journalPlateletsen_US
bordeaux.page420-423en_US
bordeaux.volume32en_US
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue3en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.institutionINSERMen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03404637
hal.version1
hal.date.transferred2021-10-26T15:47:30Z
hal.exporttrue
dc.rights.ccPas de Licence CCen_US
bordeaux.COinSctx_ver=Z39.88-2004&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.jtitle=Platelets&rft.date=2021&rft.volume=32&rft.issue=3&rft.spage=420-423&rft.epage=420-423&rft.eissn=0953-7104%20(print)%201369-1635%20(online)&rft.issn=0953-7104%20(print)%201369-1635%20(online)&rft.au=MICHAUD,%20Vincent&FIORE,%20Mathieu&COSTE,%20Valentine&HUGUENIN,%20Yoann&BORDET,%20Jean-Claude&rft.genre=article


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