Article
Masks of Albinism: Clinical Spectrum of Hermansky-Pudlak Syndrome.
International journal of molecular sciences - 19 Oct 2024
Bobreshova Anastasia M, Ionova Sofya A, Kadyshev Vitaly V, Sukhanova Natella V, Viakhireva Iuliia V, Filatova Alexandra Yu, Zhurkova Natalia V, Sparber Peter A, Marakhonov Andrey V, Vasilyeva Tatyana A, Shchagina Olga A, Kutsev Sergey I, Zinchenko Rena A
Abstract excerpt
Hermansky-Pudlak syndrome (HPS) is a rare disease inherited in the autosomal recessive mode, including 11 clinical genetic subtypes. They are associated with impaired function of the BLOC protein complex (Biogenesis of Lysosome-related Organelles Complexes), and the subunits of the AP-3 complex (adaptor protein complex). Each has its own clinical features, but they are all characterized by albinism, bleeding...
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