%0 Journal Article
%T Two Likely Pathogenic Variants of COL2A1 in Unrelated Korean Patients With Ocular-Only Variants of Stickler Syndrome: The First Molecular Diagnosis in Korea
%A Chang-Seok Ki
%A Je Moon Yoon
%A Mi-Ae Jang
%A Sang Jin Kim
%J Archive of "Annals of Laboratory Medicine".
%D 2016
%R 10.3343/alm.2016.36.2.166
%K COL2A1
%K Mutation
%K Ocular-only variant
%K Stickler syndrome
%K Retinal detachment
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4713851/