M Huizing, MCV Malicdan, JA Wang… - Human …, 2020 - Wiley Online Library
Hermansky–Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS‐associated genes encode …
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis …
M Huizing, MCV Malicdan, BR Gochuico, WA Gahl - 2021 - europepmc.org
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or …
KJ O'Brien, X Parisi, NR Shelman… - Journal of Internal …, 2021 - Wiley Online Library
Background Knowledge about inflammatory bowel disease (IBD) in patients with Hermansky– Pudlak syndrome (HPS), a rare autosomal recessive disorder characterized by defective …
Q Zaman, Sadeeda, M Anas, G Rehman, Q Khan… - Genes, 2023 - mdpi.com
Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct …
H Koulali, S Azzmouri, M Tajir, K Zerrouki… - ACG Case Reports …, 2024 - journals.lww.com
Hermansky-Pudlak syndrome (HPS) is a rare genetic disorder characterized by oculocutaneous albinism, bleeding diathesis, and multiorgan involvement. Granulomatous …
TP Joshi, HY Wang, P Athukuri, S Bohac… - American Journal of …, 2022 - Springer
Genodermatoses are genetically inherited dermatologic conditions. The management of cutaneous findings in genodermatoses is challenging, and first-line therapies, such as …
Background: Hermansky–Pudlak syndrome (HSP) was first reported in 1959 as oculocutaneous albinism with bleeding abnormalities, and now consists of 11 distinct …
J Ishihara, T Mizuochi, T Uchida, Y Takaki… - BMC …, 2019 - Springer
Abstract Background Hermansky-Pudlak syndrome (HPS) is a rare, genetically heterogeneous disorder that manifests oculocutaneous albinism together with bleeding …