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

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

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...

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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: Book
Published: "Paediatrician" Publishers LLC, 2021-12-01T00:00:00Z.
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3rd Floor Main Library

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