Search Results - "Baratang, NV"

Novel fibronectin mutations and expansion of the phenotype in spondylometaphyseal dysplasia with “corner fractures” by Costantini, Alice, Valta, Helena, Baratang, Nissan Vida, Yap, Patrick, Bertola, Débora R., Yamamoto, Guilherme L., Kim, Chong A., Chen, Jiani, Wierenga, Klaas J., Fanning, Elizabeth A., Escobar, Luis, McWalter, Kirsty, McLaughlin, Heather, Willaert, Rebecca, Begtrup, Amber, Alm, Jessica J., Reinhardt, Dieter P., Mäkitie, Outi, Campeau, Philippe M.

“…Heterozygous pathogenic variants in the FN1 gene, encoding fibronectin (FN), have recently been shown to be associated with a skeletal disorder in some…”
Get full text

Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures" by Alm, JJ, Costantini, A, Valta, H, Baratang, NV, Yap, P, Bertola, D, Yamamoto, G, Kim, CA, Chen, JN, Wierenga, KJ, Fanning, EA, Escobar, L, Mcwalter, K, Mclaughlin, H, Willaert, R, Begtrup, A, Reinhardt, DP, Makitie, O, Campeau, PM

Get full text