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
Funding for this research was provided by:
Genespoir (Year 2019)
This article is maintained by: Elsevier
Article Title: BLOC1S5 pathogenic variants cause a new type of Hermansky–Pudlak syndrome
Journal Title: Genetics in Medicine
CrossRef DOI link to publisher maintained version: https://doi.org/10.1038/s41436-020-0867-5
Content Type: article
Copyright: © 2020, The Author(s), under exclusive licence to the American College of Medical Genetics and Genomics