1 |
Briggs MD, Hoffman SM, King LM, et al. Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene [J]. Nat Genet, 1995, 10(3): 330-336.
|
2 |
Tuncel G, Akcan N, Gul S, et al. Identification of a novel de novo COMP gene variant as a likely cause of pseudoachondroplasia [J]. Appl Immunohistochem Mol Morphol, 2021, 29(7): 546-550.
|
3 |
梁寒婷, 苗卉, 潘慧, 等. 假性软骨发育不全的临床特点和COMP基因突变分析 [J]. 中华内分泌代谢杂志, 2019, 35(12): 1006-1013.
|
4 |
刘蕊蕊, 马士凤, 刘笑孝, 等. 1例COMP基因突变所致假性软骨发育不全病例报告 [J]. 天津医科大学学报, 2022, 28(5): 555-559.
|
5 |
徐磊, 杨玉, 杨利, 等. 7例假性软骨发育不良患儿的临床特征及遗传学分析 [J]. 重庆医科大学学报, 2022, 47(3): 306-312.
|
6 |
Yu WJ, Zhang Z, He JW, et al. Identification of two novel mutations in the COMP gene in six families with pseudoachondroplasia [J]. Mol Med Rep, 2016, 14(3): 2180-2186.
|
7 |
Lin W, Chou I, Wang C, et al. Novel mutations in the cartilage oligomeric matrix protein gene identified in two Taiwanese patients with pseudoachondroplasia and multiple epiphyseal dysplasia [J]. Pediatrics & Neonatology, 2018, 59(4): 412-414.
|
8 |
钟雅琴, 贺佩祥, 彭韦霞, 等. 软骨寡聚物基质蛋白基因突变一家系临床特征分析 [J]. 中华实用诊断与治疗杂志, 2019, 33(6): 587-588.
|
9 |
张祎俐, 赵彤, 石鸿娇, 等. 一例COMP基因杂合突变致假性软骨发育不全病例 [J]. 中国优生与遗传杂志, 2022, 30(4): 672-675.
|
10 |
Posey KL, Coustry F, Hecht JT. Cartilage oligomeric matrix protein: COMPopathies and beyond [J]. Matrix Biol, 2018, 71-72: 161-173.
|
11 |
Dennis EP, Greenhalgh-Maychell PL, Briggs MD. Multiple epiphyseal dysplasia and related disorders: Molecular genetics, disease mechanisms, and therapeutic avenues [J]. Dev Dyn, 2021, 250(3): 345-359.
|