col2a1 mutation
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scholarly journals COL2A1 Mutation (c.611G>C) Leads to Early-Onset Osteoarthritis in a Chinese Family

2021 ◽  
Vol Volume 14 ◽  
pp. 2569-2574
Author(s):  
Pengyu Li ◽  
Anran Wang ◽  
Jiangxia Li ◽  
Xi Li ◽  
Wenjie Sun ◽  
...  
Keyword(s):  
Early Onset ◽  
Chinese Family ◽  
Col2a1 Mutation

scholarly journals A novel COL2A1 mutation causing spondyloepiphyseal dysplasia congenita in a Chinese family

2021 ◽  
Vol 35 (4) ◽  
Author(s):  
Tangjun Zhou ◽  
Xiao Yang ◽  
Zhiqian Chen ◽  
Yifan Zhou ◽  
Xiankun Cao ◽  
...  
Keyword(s):  
Chinese Family ◽  
Spondyloepiphyseal Dysplasia ◽  
Spondyloepiphyseal Dysplasia Congenita ◽  
Col2a1 Mutation

Stickler Syndrome Genotype (COL2A1 mutation) with Retinitis Pigmentosa Phenotype

2020 ◽  
Vol 4 (5) ◽  
pp. 522
Author(s):  
Mark P. Breazzano ◽  
Stephen H. Tsang ◽  
Tongalp H. Tezel
Keyword(s):  
Retinitis Pigmentosa ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

A novel deep intronic COL2A1 mutation in a family with early‐onset high myopia/ocular‐only Stickler syndrome

2020 ◽  
Vol 40 (3) ◽  
pp. 281-288 ◽  
Author(s):  
Wenmin Sun ◽  
Xueshan Xiao ◽  
Shiqiang Li ◽  
Xiaoyun Jia ◽  
Qingjiong Zhang
Keyword(s):  
Early Onset ◽  
High Myopia ◽  
Stickler Syndrome ◽  
Col2a1 Mutation

scholarly journals Exome sequencing reveals a novel COL2A1 mutation implicated in multiple epiphyseal dysplasia

2019 ◽  
Vol 179 (4) ◽  
pp. 534-541 ◽  
Author(s):  
Vinod Dasa ◽  
James R.B. Eastwood ◽  
Michal Podgorski ◽  
Heewon Park ◽  
Christopher Blackstock ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Multiple Epiphyseal Dysplasia ◽  
Epiphyseal Dysplasia ◽  
Col2a1 Mutation

scholarly journals Whole-exome sequencing reveals a novel COL2A1 mutation in a patient with spondylo­epiphyseal dysplasia congenita

2016 ◽  
Vol 15 (1) ◽  
Author(s):  
A. Sangsin ◽  
C. Srichomthong ◽  
M. Pongpanich ◽  
K. Suphapeetiporn ◽  
V. Shotelersuk
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Col2a1 Mutation

scholarly journals P14.04: Persistent notochord in a fetus with COL2A1 mutation: a case report

2015 ◽  
Vol 46 ◽  
pp. 165-165
Author(s):  
E. Codsi ◽  
K. Borowski ◽  
A. Faksh ◽  
M. Trinidad ◽  
C. Rose ◽  
...  
Keyword(s):  
Case Report ◽  
Col2a1 Mutation
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