Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea

DOI: 10.3343/alm.2016.36.2.166

Keywords: COL2A1, Mutation, Ocular-only variant, Stickler syndrome, Retinal detachment

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