- Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
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Yoon JM, Jang MA, Ki CS, Kim SJ
- KMID: 2373517
- Ann Lab Med.
- 2016 Mar;36(2):166-169.
- doi: 10.3343/alm.2016.36.2.166
Stickler syndrome is a genetically heterogeneous disorder that affects the ocular, auditory, and musculoskeletal systems. Ocular-only variant of Stickler syndrome type 1 (OSTL1) is characterized by high risk of retinal... -
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