Article
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.
Journal of dermatological science - 1 Oct 2017
Ritelli Marco, Palit Aparna, Giacopuzzi Edoardo, Inamadar Arun C, Dordoni Chiara, Mujja Ajay, Murgude Meghana S, Colombi Marina
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