Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3

Case report: Inflammatory bowel disease in Hermansky-Pudlak syndrome type 3 due to novel variant in HPS3

BackgroundHermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder with phenotypic and genetic heterogeneity, characterized by oculocutaneous albinism, bleeding diathesis, and other specific subtypes such as colitis. HPS3 is caused by biallelic mutations in HPS3. Patients with HPS3 hav...

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Bibliographic Details
Main Authors: Jingqun Mai, Zhu Zhang, Bocheng Xu, Shanling Liu, He Wang, Hao Wang, Shuo Yang
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Genetics
Subjects:
Hermansky-Pudlak syndrome
HPS3
exome sequencing
inflammatory bowel disease
colitis
Glucocorticoids
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1465527/full
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https://www.frontiersin.org/articles/10.3389/fgene.2025.1465527/full

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