Kniest Dysplasia Latest Advances

Find the Latest Research About Kniest Dysplasia

Last Updated: 02/24/2026

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Found 91 publications

Diagnostic Challenge of Phenotypic Variability in COL2A1-related Disorders: Four Novel Variants That Expand the Clinical Spectrum

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

Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of COL2A1 (c.1266+2T>A) in an Adult with Kniest Dysplasia: A Case Report.

Out-of-Frame Transcript and in-Frame Deletion owing to a Novel Splice Mutation of COL2A1 (c.1266+2T>A) in an Adult with Kniest Dysplasia: A Case Report.

Journal: Molecular syndromology
Published: September 03, 2024

Kniest Dysplasia without Ocular and Auditory Abnormalities in a Boy of 12 Months.

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.

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.

The molecular complexity of COL2A1 splicing variants and their significance in phenotype severity.

Journal: Bone
Published: September 22, 2023

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Clinical and Genetic Characteristics of COL2A1-Associated Skeletal Dysplasias in 60 Russian Patients: Part I.

Journal: Genes
Published: December 08, 2021

A Novel Splicing Variant of COL2A1 in a Fetus with Achondrogenesis Type II: Interpretation of Pathogenicity of In-Frame Deletions.

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.

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.

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.

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.

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.

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
Showing 1-12 of 91

Last Updated: 02/24/2026