Article
Novel variants in the BLOC1S3 gene in patients presenting a mild form of Hermansky-Pudlak syndrome.
Pigment cell & melanoma research - 1 Jan 2021
Pennamen Perrine, Tingaud-Sequeira Angèle, Michaud Vincent, Morice-Picard Fanny, Plaisant Claudio, Vincent-Delorme Catherine, Giuliano Fabienne, Azarnoush Saba, Capri Yline, Marçon Carolina, Lacombe Didier, Lasseaux Eulalie, Arveiler Benoît
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) associates oculocutaneous albinism and systemic affections including platelet dense granules anomalies leading to bleeding diathesis and, depending on the form, pulmonary fibrosis, immunodeficiency, and/or granulomatous colitis. So far, 11 forms of autosomal recessive HPS caused by pathogenic variants in 11 different genes have been reported. We describe three HPS-8 consanguineous...
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