Brachydactyly Mononen Type Latest Advances

Copy number variation: an important genetic mechanism in SMARCAL1-related immunoosseous dysplasia (Schimke type) in Indian patients.

Journal: Journal of genetics

Published: January 22, 2026

A case report on the oral manifestations of Stüve-Wiedemann syndrome.

Journal: Journal of oral science

Published: January 18, 2026

Melnick-Needles Syndrome: Synthesizing Current Knowledge on Etiology, Clinical Presentation, Diagnostic Methods, and Potential Therapeutic Options.

Journal: Prague medical report

Published: January 02, 2026

Disruption of the FGFR1-FGF23-Phosphate Axis and Targeted Therapy in a Murine Model of Osteoglophonic Dysplasia.

Journal: bioRxiv : the preprint server for biology

Published: December 31, 2025

Expanding the literature on Cantú syndrome: recognising early clinical and phenotypic clues.

Journal: BMJ case reports

Published: December 18, 2025

Mucopolysaccharidosis or Skeletal Dysplasia?: Important Clinical and Radiologic Clues for Differential Diagnosis of Based on Difficult Cases.

Journal: Journal of clinical research in pediatric endocrinology

Published: December 04, 2025

Quantification of keratan sulfate in biofluids by validated HPCE-LIF: application to Morquio syndrome.

Journal: Bioanalysis

Published: December 02, 2025

99mTc-MDP Bone Scintigraphy in a Case of X-Linked Spondyloepiphyseal Dysplasia Tarda.

Journal: Molecular imaging and radionuclide therapy

Published: December 01, 2025

Intraoperative Neuromonitoring Assists in Detecting Positioning-Associated Ischemia in Non-Spine Surgery in Morquio Syndrome: A Case Report.

Journal: A&A practice

Published: November 10, 2025

Elevated MMP9 Expression-A Potential In Vitro Biomarker for COMPopathies.

Journal: International journal of molecular sciences

Published: November 06, 2025

Genetic Heterogeneity Underlying Familial Short Stature.

Journal: Diagnostics (Basel, Switzerland)

Published: October 28, 2025

Clinical, Molecular Characteristics, and Genotype-Phenotype Relationships of Metaphyseal Chondrodysplasia Type Schmid.

Journal: Calcified tissue international

Published: October 06, 2025