Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1.
Piard J, Lespinasse J, Vlckova M, Mensah MA, Iurian S, Simandlova M, Malikova M, Bartsch O, Rossi M, Lenoir M, Nugues F, Mundlos S, Kornak U, Stanier P, Sousa SB, Van Maldergem L. Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1. Am J Med Genet A. 2018 03; 176(3):668-675.