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Last Updated: 10/31/2025
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Found 424 publications
Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.
Journal: International journal of molecular sciences
Published: August 30, 2025
Case Report: Life-threatening overlap of hemophagocytic syndrome and atypical hemolytic uremic syndrome in a patient with autoimmune polyglandular syndrome type 1 successfully treated with targeted immunotherapy.
Journal: Frontiers in immunology
Published: July 16, 2025
Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.
Journal: BMJ case reports
Published: May 27, 2025
A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).
Journal: bioRxiv : the preprint server for biology
Published: May 23, 2025
Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants.
Journal: JCEM case reports
Published: March 27, 2025
Immune cell subsets in autoimmune polyendocrine syndrome type I.
Journal: Scientific reports
Published: March 24, 2025
COL10A1-related metaphyseal dysplasia Schmid caused by the p.L644F variant in the COL10A1 gene.
Journal: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology
Published: March 20, 2025
Longitudinal Immune Profiling in Autoimmune Polyendocrine Syndrome Type 1.
Journal: Scandinavian journal of immunology
Published: February 24, 2025
High-resolution transcriptional impact of AIRE: effects of pathogenic variants p.Arg257Ter, p.Cys311Tyr, and polygenic risk variant p.Arg471Cys.
Journal: Frontiers in immunology
Published: February 07, 2025
MMP13-related metaphyseal dysplasia: a differential diagnosis of rickets.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 19, 2025
Deciphering the phenotypic spectrum associated with MIA3-related odontochondrodysplasia.
Journal: Journal of human genetics
Published: December 03, 2024
Last Updated: 10/31/2025