Author:
Wang Zheng,Horemuzova Eva,Iida Aritoshi,Guo Long,Liu Ying,Matsumoto Naomichi,Nishimura Gen,Nordgren Ann,Miyake Noriko,Tham Emma,Grigelioniene Giedre,Ikegawa Shiro
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference22 articles.
1. Bonafe, L., Cormier-Daire, V., Hall, C., Lachman, R., Mortier, G., Mundlos, S. et al. Nosology and classification of genetic skeletal disorders: 2015 revision. Am. J. Med. Genet. A 167A, 2869–2892 (2015).
2. Ehara, S., Kim, OH., Maisawa, S., Takasago, Y. & Nishimura, G. Axial spondylometaphyseal dysplasia. Eur. J. Pediatr. 156, 627–630 (1997).
3. Isidor, B., Baron, S., Khau van Kien, P., Bertrand, A. M., David, A. et al. Axial spondylometaphyseal dysplasia: confirmation and further delineation of a new SMD with retinal dystrophy. Am. J. Med. Genet. A 152A, 1550–1554 (2010).
4. Suzuki, S., Kim, O. H., Makita, Y., Saito, T., Lim, G. Y., Cho, T. J. et al. Axial spondylometaphyseal dysplasia: additional reports. Am. J. Med. Genet. A 155A, 2521–2528 (2011).
5. Wang, Z., Iida, A., Miyake, N., Nishiguchi, KM., Fujita, K., Nakazawa, T. et al. Axial spondylometaphyseal dysplasia is caused by C21orf2 mutations. PLoS ONE 11, e0150555 (2016).