Article
BLOC1S5 pathogenic variants cause a new type of Hermansky-Pudlak syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2020
Pennamen Perrine, Le Linh, Tingaud-Sequeira Angèle, Fiore Mathieu, Bauters Anne, Van Duong Béatrice Nguyen, Coste Valentine, Bordet Jean-Claude, Plaisant Claudio, Diallo Modibo, Michaud Vincent, Trimouille Aurélien, Lacombe Didier, Lasseaux Eulalie, Delevoye Cédric, Picard Fanny Morice, Delobel Bruno, Marks Michael S, Arveiler Benoit
Abstract excerpt
PURPOSE: Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, excessive bleeding, and often additional symptoms. Variants in ten different genes have been involved in HPS. However, some patients lack variants in these genes. We aimed to identify new genes involved in nonsyndromic or syndromic forms of albinism. METHODS: Two hundred thirty albinism patients lacking a molecular diagnosis of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.