Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Por Fischer-Zirnsak, Björn, Escande-Beillard, Nathalie, Ganesh, Jaya, Tan, Yu Xuan, Al Bughaili, Mohammed, Lin, Angela E., Sahai, Inderneel, Bahena, Paulina, Reichert, Sara L., Loh, Abigail, Wright, Graham D., Liu, Jaron, Rahikkala, Elisa, Pivnick, Eniko K., Choudhri, Asim F., Krüger, Ulrike, Zemojtel, Tomasz, van Ravenswaaij-Arts, Conny, Mostafavi, Roya, Stolte-Dijkstra, Irene, Symoens, Sofie, Pajunen, Leila, Al-Gazali, Lihadh, Meierhofer, David, Robinson, Peter N., Mundlos, Stefan, Villarroel, Camilo E., Byers, Peter, Masri, Amira, Robertson, Stephen P., Schwarze, Ulrike, Callewaert, Bert, Reversade, Bruno, Kornak, Uwe
Publicado no Am J Hum Genet (2015)