Work

A non-classical presentation of APECED in a family with heterozygous R203X AIRE gene mutation

Year: 2022

Type: article

Study design: Case Report

Source: Journal of Endocrinological Investigation

DOI: 10.1007/s40618-022-01937-w

Authors: G. Radetti, A. Puel, R. Franceschi, S. Longhi, N. Gallo, C. Betterle

Institutions: Ospedale di Bolzano, Inserm, Université Paris Cité, Human Genetic of Infectious Diseases, Institut des Maladies Génétiques Imagine, Ospedale Santa Chiara, University of Padua

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

OpenAlex ID: W4306382029

FWCI: 0.153

Cites: 7

Cited by: 2

Related to: 10