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.

Marco Ritelli Aparna Palit Edoardo Giacopuzzi Arun C Inamadar Chiara Dordoni Ajay Mujja Meghana S Murgude Marina Colombi

J Dermatol Sci

Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy; Department of Dermatology, Venereology & Leprosy, Sri B. M. Patil Medical College, Hospital & Research Center, BLDE University, Vijayapur, Karnataka, India; Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy. Electronic address:

Published: October 2017

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http://dx.doi.org/10.1016/j.jdermsci.2017.04.010	DOI Listing

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