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, 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:
hermansky–pudlak syndrome type 6
oculocutaneous albinism
platelets
dense granules
hemorrhagic syndrome
bowel vascular malformation
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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