Filters
Term Search
You can select from the dropdown list OR enter your own terms to refine the search.
Last Updated: 10/31/2025
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 349 publications
Novel SOX9 Gene Variant Associated with Campomelic Dysplasia: Effects on Sex Phenotypes.
Journal: Journal of clinical research in pediatric endocrinology
Published: June 10, 2025
Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.
Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: May 15, 2025
Variants in the SOX9 transactivation middle domain induce axial skeleton dysplasia and scoliosis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: January 24, 2025
Long-Term Outcomes of Airway Management in 6 Children With Campomelic Dysplasia.
Journal: The Annals of otology, rhinology, and laryngology
Published: October 15, 2024
SOX9 haploinsufficiency reveals SOX9-Noggin interaction in BMP-SMAD signaling pathway in chondrogenesis.
Journal: Cellular and molecular life sciences : CMLS
Published: September 06, 2024
Dissecting SOX9 dynamics reveals its differential regulation in osteoarthritis.
Journal: Journal of cellular physiology
Published: March 01, 2024
The Fetus Points to the Diagnosis of Rare Skeletal Dysplasia: Stuve-wiedemann Syndrome: Retrospective Case Series and Prenatal Review.
Journal: Journal of medical ultrasound
Published: December 26, 2023
Prenatal Diagnosis of Fetal Micrognathia at 11-20 Weeks of Gestation: A Prospective Observation Study.
Journal: Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine
Published: July 26, 2023
Skeletal dysplasias of the fetus and infant: comprehensive review and our experience over a 10-year period.
Journal: Ceskoslovenska patologie
Published: July 19, 2023
Last Updated: 10/31/2025