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Lessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting

dc.rights.licenseopenen_US
dc.contributor.authorMARTI, A.
dc.contributor.authorLASSEAUX, E.
dc.contributor.authorEZZEDINE, K.
dc.contributor.authorLEAUTE-LABREZE, C.
dc.contributor.authorBORALEVI, F.
dc.contributor.authorPAYA, C.
dc.contributor.authorCOSTE, V.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorDEROISSART, Vincent
dc.contributor.authorARVEILER, Benoit
dc.contributor.authorTAIEB, A.
dc.contributor.authorMORICE-PICARD, F.
dc.date.accessioned2020-12-07T09:22:09Z
dc.date.available2020-12-07T09:22:09Z
dc.date.issued2018-03
dc.identifier.issn1755-1471en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/21317
dc.description.abstractEnAlbinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for one patient (1.6%). Heterogeneity for hair and skin phenotype was noted across and within the different genotypes. Skin and hair hypopigmentation did not correlate with visual impairment. The diagnosis of unrecognized syndromic forms and of cases of ocular albinism in this prospective and comprehensive series of patients with albinism in a European setting is remarkable. Photoprotection was overall good but not optimal.
dc.language.isoENen_US
dc.subject.enISPED
dc.title.enLessons of a day hospital: Comprehensive assessment of patients with albinism in a European setting
dc.title.alternativePigment Cell Melanoma Resen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1111/pcmr.12651en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed28976636en_US
bordeaux.journalPigment cell & melanoma researchen_US
bordeaux.page318-329en_US
bordeaux.volume31en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - UMR 1219en_US
bordeaux.issue2en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamISPEDen_US
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03043119
hal.version1
hal.date.transferred2020-12-07T09:22:13Z
hal.exporttrue
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