Work

Hermansky-Pudlak syndrome with early onset inflammatory bowel disease due to loss of dysbindin expression

Year: 2023

Type: article

Study design: Case Report

Source: European Journal of Medical Genetics

DOI: 10.1016/j.ejmg.2023.104786

Authors: Sagar Bhattad, Michael Libre, Joseph M. Choi, Rachna Shanbhag Mohite, Neha Singh, Janet G. Markle

Institutions: Vanderbilt University, Vanderbilt University Medical Center

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Vanderbilt-Ingram Cancer Center, National Institutes of Health, Vanderbilt Digestive Diseases Research Center, Vanderbilt University Medical Center, National Institute of Diabetes and Digestive and Kidney Diseases

Awards: G4415926739, Molecular and Cellular Basis for Digestive Diseases

OpenAlex ID: W4376110069

FWCI: 0.437

Cites: 16

Cited by: 4

Related to: 10