A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies.
| dc.contributor.author | MICHAUD, Vincent
IDREF: 243713878 | |
| dc.contributor.author | FIORE, Mathieu | |
| dc.contributor.author | COSTE, Valentine | |
| dc.contributor.author | HUGUENIN, Yoann | |
| dc.contributor.author | BORDET, Jean-Claude | |
| dc.contributor.author | PLAISANT, Claudio | |
| dc.contributor.author | LASSEAUX, Eulalie | |
| dc.contributor.author | MORICE-PICARD, Fanny | |
| hal.structure.identifier | Laboratoire Maladies Rares: Génétique et Métabolisme (Bordeaux) [U1211 INSERM/MRGM] | |
| dc.contributor.author | ARVEILER, Benoit | |
| dc.date.accessioned | 2023-01-09T14:09:50Z | |
| dc.date.available | 2023-01-09T14:09:50Z | |
| dc.date.issued | 2021-04-03 | |
| dc.identifier.issn | 1369-1635 | |
| dc.identifier.uri | https://oskar-bordeaux.fr/handle/20.500.12278/171625 | |
| dc.description.abstractEn | Hermansky-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.en | Albinism | |
| dc.subject.en | Blood Platelets | |
| dc.subject.en | Female | |
| dc.subject.en | Hermanski-Pudlak Syndrome | |
| dc.subject.en | Humans | |
| dc.subject.en | Infant | |
| dc.title.en | A new case with Hermansky-Pudlak syndrome type 9, a rare cause of syndromic albinism with severe defect of platelets dense bodies. | |
| dc.title.alternative | Platelets | |
| dc.type | Article de revue | en_US |
| dc.identifier.doi | 10.1080/09537104.2020.1742315 | |
| dc.subject.hal | Sciences du Vivant [q-bio]/Médecine humaine et pathologie | |
| dc.identifier.pubmed | 32245340 | |
| bordeaux.journal | Platelets | en_US |
| bordeaux.page | 420-423 | |
| bordeaux.volume | 32 | |
| bordeaux.hal.laboratories | Maladies Rares : Génétique et Métabolisme (MRGM) - UMR 1211 | en_US |
| bordeaux.issue | 3 | |
| bordeaux.institution | Université de Bordeaux | |
| bordeaux.institution | INSERM | |
| bordeaux.import.source | pubmed | |
| hal.export | false | |
| workflow.import.source | pubmed | |
| dc.rights.cc | Pas de Licence CC | en_US |
| bordeaux.COinS | ctx_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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