Schwartz-Jampel Syndrome Latest Advances

Find the Latest Research About Schwartz-Jampel Syndrome

Last Updated: 09/19/2026

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Found 6167 publications

Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features.

Atypical presentation of Wolcott-Rallison syndrome with severe Epstein-Barr virus hepatitis, secondary peroxisomal dysfunction and novel neuroimaging features.

Journal: BMJ case reports

Published: August 24, 2026

Osteodystrophy in chronic liver disease

Osteodystrophy in chronic liver disease

Journal: Ugeskrift for laeger

Published: July 03, 2026

Treatment of severe tracheobronchopathia osteochondroplastica: Application of endobronchial argon plasma coagulation, presentation of three cases and literature review.

Treatment of severe tracheobronchopathia osteochondroplastica: Application of endobronchial argon plasma coagulation, presentation of three cases and literature review.

Journal: Tuberkuloz ve toraks

Published: June 27, 2026

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

A novel homozygous TREM2 c.257del variant in a Chinese family with Nasu-Hakola disease: A case study and literature review.

Journal: The Journal of international medical research

Published: June 18, 2026

A rare homozygous mutation in TYROBP resulting in early-onset dementia with bone cysts.

A rare homozygous mutation in TYROBP resulting in early-onset dementia with bone cysts.

Journal: Neurocase

Published: June 09, 2026

Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report.

Perioperative Management of Presumed Schwartz-Jampel Syndrome During Complex Pediatric Spinal Fusion: A Case Report.

Journal: Case reports in anesthesiology

Published: June 03, 2026

Reclassification of PAPSS2 Missense Variants in Turkish Patients with Brachyolmia Type 4: Multi-Modal Computational and Structural Biology Evidence for APS-Kinase Domain Dysfunction.

Reclassification of PAPSS2 Missense Variants in Turkish Patients with Brachyolmia Type 4: Multi-Modal Computational and Structural Biology Evidence for APS-Kinase Domain Dysfunction.

Journal: Medicina (Kaunas, Lithuania)

Published: May 23, 2026

Closely Monitored Successful Full-Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review.

Closely Monitored Successful Full-Term Delivery in a Woman With Spondyloepiphyseal Dysplasia Congenita: A Case Report and Literature Review.

Journal: The journal of obstetrics and gynaecology research

Published: May 12, 2026

Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant.

Case Report: Cortical bone loss, impaired mineralization, and reduced adiposity contributing to chronic bone pain in SFRP4-related skeletal disease with an ALPL variant.

Journal: Frontiers in endocrinology

Published: May 01, 2026

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Modified Distal-Radial Dome Osteotomy With Segmental Resection for Madelung Deformity: A Case Report.

Journal: JBJS case connector

Published: April 10, 2026

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Similarities and Differences of Multiple Epiphyseal Dysplasias: Genetic Features and Natural Course in 22 Patients.

Journal: Genes

Published: March 22, 2026

A truncated COL10A1 protein causes Schmid metaphyseal chondrodysplasia via protein downregulation and impairing α1 trimer formation and secretion.

A truncated COL10A1 protein causes Schmid metaphyseal chondrodysplasia via protein downregulation and impairing α1 trimer formation and secretion.

Journal: Functional & integrative genomics

Published: March 06, 2026

Showing 1-12 of 6,167

Last Updated: 09/19/2026