Pyle Disease Latest Advances

Autoimmune polyendocrine syndrome type Ⅰ complicated by respiratory system diseases in 3 cases

Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics

Published: May 14, 2026

Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.

Journal: Journal of genetics

Published: May 05, 2026

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

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

Journal: The Journal of clinical endocrinology and metabolism

Published: October 21, 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

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

Journal: Eye (London, England)

Published: August 17, 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

Pyle Disease Latest Advances

Find the Latest Research About Pyle Disease

Autoimmune polyendocrine syndrome type Ⅰ complicated by respiratory system diseases in 3 cases

Autoimmune polyendocrine syndrome type Ⅰ complicated by respiratory system diseases in 3 cases

Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.

Craniometaphyseal dysplasia with severe maxillary hypoplasia due to ANKH gene mutation: A case report.

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).

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

Long-term follow-up of autoimmune polyendocrine syndrome type 1 in Norway.

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.

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

Retinopathy caused by a primary immune regulatory disorder - the spectrum of AIRE-associated retinopathy: case series and literature review.

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.