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

Publication date: October 2017
Source:Journal of Dermatological Science, Volume 88, Issue 1
Author(s): Marco Ritelli, Aparna Palit, Edoardo Giacopuzzi, Arun C. Inamadar, Chiara Dordoni, Ajay Mujja, Meghana S. Murgude, Marina Colombi




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