Items where authors include "Cormier-Daire, V."

Article

Burrage, L.C., Reynolds, J.J., Baratang, N.V. et al. (57 more authors) (2019) Bi-allelic variants in TONSL cause SPONASTRIME dysplasia and a spectrum of skeletal dysplasia phenotypes. American Journal of Human Genetics, 104 (3). pp. 422-438. ISSN 0002-9297

Barraza-García, J., Rivera-Pedroza, C.I., Hisado-Oliva, A. et al. (10 more authors) (2017) Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. Clinical Genetics, 92 (1). ISSN 0009-9163

Jackson, G.C., Mittaz-Crettol, L., Taylor, J.A. et al. (17 more authors) (2012) Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution. Human Mutation, 33 (1). 144 - 157. ISSN 1059-7794