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Last Updated: 10/31/2025
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Found 90 publications
Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum
Journal: Journal of clinical research in pediatric endocrinology
Published: January 24, 2025
Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.
Journal: Molecular syndromology
Published: June 29, 2024
Restoration of vision in Kniest dysplasia patient characterized by retinal detachment with dialysis of the ora serrata: A case report.
Journal: Medicine
Published: November 28, 2023
The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.
Journal: Bone
Published: September 22, 2023
A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.
Journal: Genes
Published: August 19, 2021
Radiologic Features of Type II and Type XI Collagenopathies.
Journal: Radiographics : a review publication of the Radiological Society of North America, Inc
Published: November 13, 2020
Clinical and Molecular Characterization and Discovery of Novel Genetic Mutations of Chinese Patients with COL2A1-related Dysplasia.
Journal: International journal of biological sciences
Published: July 28, 2019
Reduction Mammaplasty in a Patient with Kniest Dysplasia: Case Report and Literature Review.
Journal: Plastic and reconstructive surgery. Global open
Published: July 11, 2019
Challenging Implantation of Hip Prosthesis in a 32-year-old Patient with Kniest Syndrome.
Journal: Journal of orthopaedic case reports
Published: June 28, 2019
Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature.
Journal: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association
Published: June 20, 2019
Fetal magnetic resonance imaging of skeletal dysplasias.
Journal: Pediatric radiology
Published: June 14, 2019
Last Updated: 10/31/2025