Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome

por Boluda-Navarro, Mireia, Ibáñez, Mariam, Liquori, Alessandro, Franco-Jarava, Clara, Martínez-Gallo, Mónica, Rodríguez-Vega, Héctor, Teresa, Jaijo, Carreras, Carmen, Such, Esperanza, Zúñiga, Ángel, Colobran, Roger, Cervera, José Vicente
Publicado 2021