Pyle Disease Latest Advances

Sfrp4 Is Required for Proper Dental Formation and Stem Cell Regulation.

Journal: Journal of dental research

Published: February 11, 2026

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

Pyle Disease Latest Advances

Find the Latest Research About Pyle Disease

Sfrp4 Is Required for Proper Dental Formation and Stem Cell Regulation.

Sfrp4 Is Required for Proper Dental Formation and Stem Cell Regulation.

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

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

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

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

Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

Head and Neck Malignancies in Autoimmune Polyendocrine Syndrome Type 1 (APS-1/APECED): A Scoping Review of Molecular Pathogenesis, Clinical Features, and Outcomes.

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

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

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

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

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.

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.

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

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

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

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

Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

Delayed diagnosis of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) in a Vietnamese adolescent male presenting with hypotension.

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

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

Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants.

Type 2 Diabetes in a Patient With IMAGe Syndrome Secondary to Polymerase Epsilon Pathogenic Variants.