Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1
由于PTDSS1基因的新发突变导致皮肤松弛和骨骼过度生长
期刊:American Journal of Medical Genetics Part A
影响因子:1.7
doi:10.1002/ajmg.a.38604
Piard, Juliette; Lespinasse, James; Vlckova, Marketa; Mensah, Martin A; Iurian, Sorin; Simandlova, Martina; Malikova, Marcela; Bartsch, Oliver; Rossi, Massimiliano; Lenoir, Marion; Nugues, Frédérique; Mundlos, Stefan; Kornak, Uwe; Stanier, Philip; Sousa, Sérgio B; Van Maldergem, Lionel