Discriminative Features in Three Autosomal Recessive Cutis Laxa Syndromes: Cutis Laxa IIA, Cutis Laxa IIB, and Geroderma Osteoplastica

Por Kariminejad, Ariana, Afroozan, Fariba, Bozorgmehr, Bita, Ghanadan, Alireza, Akbaroghli, Susan, Khorram Khorshid, Hamid Reza, Mojahedi, Faezeh, Setoodeh, Aria, Loh, Abigail, Tan, Yu Xuan, Escande-Beillard, Nathalie, Malfait, Fransiska, Reversade, Bruno, Gardeitchik, Thatjana, Morava, Eva
Publicado no Int J Mol Sci (2017)

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)