Hermansky-Pudlak Syndrome Type 6 Accompanied with Bowel Vascular Malformation: Clinical Case

• Main Authors: Natalia V. Zhurkova (Author), Nato D. Vashakmadze (Author), Natella V. Suhanova (Author), Grigorii V. Revunenekov (Author), Olga B. Gordeeva (Author), Maria V. Egorova (Author), Dmitriy S. Ovchinnikov (Author), Vitaliy V. Kadyshev (Author), Rena A. Zhinchenko (Author), Leyla S. Namazova-Baranova (Author)
• Format: Knjiga
• Izdano: "Paediatrician" Publishers LLC, 2021-12-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Background. Hermansky-Pudlak syndrome type 6 is rare hereditary disease caused by pathogenic variants in base sequence, deletions, and insertions in the HPS6 gene encoding the transmembrane protein of the same name. This disease occurs with hemorrhagic syndrome, oculocutaneous albinism, and inflamma...