Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly
导致综合征性短指症的 PTHLH 和 TRPS1 基因中的新型致病变异
期刊:Journal of Bone and Mineral Research
影响因子:5.1
doi:10.1002/jbmr.4490
Francesca Marta Elli, Deborah Mattinzoli, Camilla Lucca, Matteo Piu, Maria A Maffini, Jole Costanza, Laura Fontana, Carlo Santaniello, Concetta Forino, Donatella Milani, Maria Teresa Bonati, Andrea Secco, Roberto Gastaldi, Carlo Alfieri, Piergiorgio Messa, Monica Miozzo, Maura Arosio, Giovanna Manto