Molecular biology reportsHumansHermanski-Pudlak SyndromeMaleCodonNonsense
A novel HPS3 pathogenic nonsense variant associated with Hermansky-Pudlak syndrome type 3 and a platelet dysfunction.
Chahnaz Chouman, Suzana Salhab, Salvatore Martella, Zahraa Mousawi, Alexandre Assi, Alain Chebly, Said El Shamieh
Published: 202510.1007/s11033-025-11142-6
Abstract
BACKGROUND: Hermansky-Pudlak Syndrome (HPS) is a rare autosomal recessive syndromic type of albinism. It is characterized by oculocutaneous hypopigmentation, platelet dysfunction, and variable systemic involvement depending on the specific subtype. T…
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