Clinical and molecular characterization of a 13-year-old Indian boy with cutis laxa type 2B: Identification of two novel PYCR1 mutations by amplicon-based semiconductor exome sequencing. Issue 1 (October 2017) - Ritelli, Marco; Palit, Aparna; Giacopuzzi, Edoardo; Inamadar, Arun C.; Dordoni, Chiara; Mujja, Ajay; Murgude, Meghana S.; Colombi, Marina