Author:
Shboul Mohammad, ,Sassi Hela,Jilani Houweyda,Rejeb Imen,Elaribi Yasmina,Hizem Syrine,Jemaa Lamia Ben,Hilmi Marwa,Kircher Susanna Gerit,Al Kaissi Ali, , , , , ,
Publisher
American Institute of Mathematical Sciences (AIMS)
Reference32 articles.
1. Kannu P, Bateman J, Savarirayan R (2012) Clinical phenotypes associated with type II collagen mutations. J Paediatr Child Health 48: E38-43.
2. Spranger J, Winterpacht A, Zabel B (1994) The type II collagenopathies: A spectrum of chondrodysplasias. Eur J Pediatr 153: 56-65.
3. Cao LH, Wang L, Ji CY, et al. (2012) Novel and recurrent COL2A1 mutations in Chinese patients with spondyloepiphyseal dysplasia. Genet Mol Res 11: 4130-4137.
4. Deng H, Huang X, Yuan L (2016) Molecular genetics of the COL2A1-related disorders. Mutat Res Rev Mutat Res 768: 1-13.
5. Nenna R, Turchetti A, Mastrogiorgio G, et al. (2019) COL2A1 gene mutations: Mechanisms of spondyloepiphyseal dysplasia congenita. Appl Clin Genet 12: 235-238.