Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Nadra Samra, Nicolette S Jansen, Ilham Morani, Reli Rachel Kakun, Rinat Zaid, Tamar Paperna, Mario Garcia-Dominguez, Yuri Viner, Hilel Frankenthal, Eric S Shinwell, Igor Portnov, Doua Bakry, Adel Shalata, Mika Shapira Rootman, Dvora Kidron, Laura A Claessens, Ron A Wevers, Hanna Mandel, Alfred C O Vertegaal, Karin Weiss
Journal of Medical Genetics Nov 2023, 60 (11) 1133-1141; DOI: 10.1136/jmg-2023-109267