Knobloch Syndrome Latest Advances
Find the Latest Research About Knobloch Syndrome
Last Updated: 06/30/2026
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Found 55 publications
Knobloch Syndrome in Childhood: Neuroradiologic Findings and Clinical Correlation.
Journal: Journal of child neurology
Published: May 07, 2026
Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene
Clinical and genetic analysis of two children with Knobloch syndrome due to variants of COL18A1 gene
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 06, 2026
A Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.
Journal: Clinical case reports
Published: August 08, 2025
A Sandwich-Type Double-Layer Amniotic Membrane Graft for Repairing Myopic Macular Hole-Related Retinal Detachment in a Child with Knobloch Syndrome.
Journal: Turkish journal of ophthalmology
Published: February 27, 2025
Ophthalmological and Genetic Profile in Knobloch Syndrome.
Journal: American journal of ophthalmology
Published: February 22, 2025
Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report.
Journal: International journal of surgery case reports
Published: November 06, 2024
Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Journal: Genes
Published: August 21, 2024
A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Journal: bioRxiv : the preprint server for biology
Published: May 07, 2024
New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
Journal: Clinical genetics
Published: March 06, 2024
Last Updated: 06/30/2026