A novel de novo mutation in COL2A1 leading to spondyloepiphyseal dysplasia congenita in a Chinese family
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics,Molecular Biology,Biochemistry
Link
http://www.nature.com/articles/hgv201759.pdf
Reference21 articles.
1. Spranger J, Wiedemann HR . Dysplasia spondyloepiphysaria congenita. Helv Paediatr Acta 1966; 21: 598.
2. Deng H, Huang X, Yuan L . Molecular genetics of the COL2A1-related disorders. Mutat Res Rev Mutat Res 2016; 768: 1–13.
3. Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W . Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families. Eur Spine J 2016; 25: 2967–2974.
4. Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D et al. Mutation Update for COL2A1 Gene variants associated with type II collagenopathies. Hum Mutat 2016; 37: 7–15.
5. Kawano O, Nakamura A, Morikawa S, Uetake K, Ishizu K, Tajima T . Spondyloepiphyseal dysplasia congenita caused by double heterozygous mutations in COL2A1. Am J Med Genet A 2015; 167: 1578–1581.
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