scholarly journals COMP Gene

2020 ◽  
Author(s):  
Keyword(s):  
Comp Gene

Homozygosity for a missense variant in COMP gene associated with severe pseudoachondroplasia

2017 ◽  
Vol 93 (1) ◽  
pp. 182-186 ◽  
Author(s):  
M. Tariq ◽  
T.N. Khan ◽  
L. Lundin ◽  
M. Jameel ◽  
T. Lönnerholm ◽  
...  
Keyword(s):  
Missense Variant ◽  
Comp Gene

scholarly journals Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia

2016 ◽  
Vol 14 (3) ◽  
pp. 2180-2186 ◽  
Author(s):  
Wei-Jia Yu ◽  
Zeng Zhang ◽  
Jin-Wei He ◽  
Wen-Zhen Fu ◽  
Chun Wang ◽  
...  
Keyword(s):  
Novel Mutations ◽  
Comp Gene

Chondrocyte-specific Enhancer Regions in the COMP Gene

2000 ◽  
Vol 18 (3) ◽  
pp. 345-350 ◽  
Author(s):  
Paul S. Issack ◽  
Carrie Fang ◽  
Michael P. Leslie ◽  
Paul E. Di Cesare
Keyword(s):  
Comp Gene

Management of progressive spine deformity in a child with pseudoachondroplasia

2021 ◽  
Vol 2 (3) ◽  
Author(s):  
Sergey Ryabykh ◽  
◽  
Polina Ochirova ◽  
Alexander Gubin ◽  
Alexander Burtsev ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Clinical Presentation ◽  
Joint Hypermobility ◽  
Spine Deformity ◽  
Clinical Criteria ◽  
Spine Radiographs ◽  
Comp Gene

Short-limbed dwarfism, knock knees and joint hypermobility are the classical clinical criteria encountered in patients with pseudoachondroplasia. Progressive kyphoscoliosis was the main clinical presentation in our patients with pseudoachondroplasia. Preoperative spine radiographs in an 13-years-old-girl showed severe kyphoscoliotic deformity (kyphosis - 70o and scoliosis of Cobbs angle – 55o ). Keywords: Pseudoachondroplasia; COMP gene mutation.

COMP Gene Coexpresses With EMT Genes and Is Associated With Poor Survival in Colon Cancer Patients

2019 ◽  
Vol 233 ◽  
pp. 297-303 ◽  
Author(s):  
Valentine N. Nfonsam ◽  
Landry E. Nfonsam ◽  
Debbie Chen ◽  
Pamela N. Omesiete ◽  
Alejandro Cruz ◽  
...  
Keyword(s):  
Colon Cancer ◽  
Cancer Patients ◽  
Poor Survival ◽  
Comp Gene

Mutations in the Cartilage Oligomeric Matrix Protein (COMP) Gene in Pseudoachondroplasia and Multiple Epiphyseal Dysplasiaa

1996 ◽  
Vol 785 (1) ◽  
pp. 188-194 ◽  
Author(s):  
Daniel H. Cohn ◽  
Michael D. Briggs ◽  
Lily M. King ◽  
David L. Rimoin ◽  
William R. Wilcox ◽  
...  
Keyword(s):  
Cartilage Oligomeric Matrix Protein ◽  
Matrix Protein ◽  
Comp Gene
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