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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.accessioned2023-01-09T14:09:50Z
dc.date.available2023-01-09T14:09:50Z
dc.date.issued2021-04-03
dc.identifier.issn1369-1635
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/171625
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 . 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 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.subject.enAlbinism
dc.subject.enBlood Platelets
dc.subject.enFemale
dc.subject.enHermanski-Pudlak Syndrome
dc.subject.enHumans
dc.subject.enInfant
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.title.alternativePlatelets
dc.typeArticle de revueen_US
dc.identifier.doi10.1080/09537104.2020.1742315
dc.subject.halSciences du Vivant [q-bio]/Médecine humaine et pathologie
dc.identifier.pubmed32245340
bordeaux.journalPlateletsen_US
bordeaux.page420-423
bordeaux.volume32
bordeaux.hal.laboratoriesMaladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211en_US
bordeaux.issue3
bordeaux.institutionUniversité de Bordeaux
bordeaux.institutionINSERM
bordeaux.import.sourcepubmed
hal.exportfalse
workflow.import.sourcepubmed
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=2021-04-03&rft.volume=32&rft.issue=3&rft.spage=420-423&rft.epage=420-423&rft.eissn=1369-1635&rft.issn=1369-1635&rft.au=MICHAUD,%20Vincent&FIORE,%20Mathieu&COSTE,%20Valentine&HUGUENIN,%20Yoann&BORDET,%20Jean-Claude&rft.genre=article


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