- 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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- Association of COL2A1 Gene Polymorphism with Degenerative Lumbar Scoliosis
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Hwang DW, Kim KT, Lee SH, Kim JY, Kim DH
- KMID: 1794724
- Clin Orthop Surg.
- 2014 Dec;6(4):379-384.
- doi: 10.4055/cios.2014.6.4.379
BACKGROUND: Degenerative lumbar scoliosis (DLS) progresses with aging after 50-60 years, and the genetic association of DLS remains largely unclear. In this study, the genetic association between collagen type II... -
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