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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Bibliographic Details
Main Authors: Natalia V. Zhurkova, Nato D. Vashakmadze, Natella V. Suhanova, Grigorii V. Revunenekov, Olga B. Gordeeva, Maria V. Egorova, Dmitriy S. Ovchinnikov, Vitaliy V. Kadyshev, Rena A. Zhinchenko, Leyla S. Namazova-Baranova
Format: Article
Language:English
Published: "Paediatrician" Publishers LLC 2021-12-01
Series:Вопросы современной педиатрии
Subjects:
синдром германского–пудлака
тип 6
глазокожный альбинизм
тромбоциты
плотные гранулы
геморрагический синдром
мальформация сосудов кишечника
Online Access:https://vsp.spr-journal.ru/jour/article/view/2777

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https://vsp.spr-journal.ru/jour/article/view/2777

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