Pyle Disease Latest Advances

Tuning RUNX2 in Craniofacial Development and Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: December 16, 2025

Dyggve-Melchior-Clausen syndrome in three siblings: a unique case series with dual diagnosis of Down syndrome and Hirschsprung disease.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: September 05, 2025

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

An Intronic Variant in CDKN1C Gene Causing IMAGe Syndrome in an Iranian Girl.

Journal: Molecular genetics & genomic medicine

Published: August 27, 2025

De novo GNAS-Gsα variant (p.Thr55Ala) with constitutive gain-of-function effects on AVPR2 and PTH1R signalings.

Journal: Journal of human genetics

Published: August 25, 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

Genotype-Phenotype Correlation Insights in a Rare Case Presenting with Multiple Osteodysplastic Syndromes.

Journal: Genes

Published: July 02, 2025

A RUNX2 GFP reporter is expressed prior to osteochondral differentiation and models Metaphyseal Dysplasia with Maxillary Hypoplasia and Brachydactyly (MDMHB).

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: June 02, 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