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Targeted Next-Generation Sequencing Appoints C16orf57 as Clericuzio-Type Poikiloderma with Neutropenia Gene
Authors:Ludovica Volpi  Gaia Roversi  Elisa Adele Colombo  Daniela Concolino  Maria Antonietta Mencarelli  Fabio Macciardi  Eric F.P.M. Schoenmakers
Affiliation:1 Università degli Studi di Milano, Dipartimento di Biologia e Genetica per le Scienze Mediche, 20133 Milan, Italy
2 Unit of Medical Genetics, Fondazione IRCCS, Istituto Nazionale Tumori, 20133 Milan, Italy
3 Università degli Studi di Milano, Genetica Medica, Dipartimento Medicina, Chirurgia e Odontoiatria, 20142 Milan, Italy
4 Department of Human Genetics, Radboud University Nijmegen Medical Center, and Nijmegen Center for Molecular Life Sciences, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
5 Dipartimento di Pediatria, Università di Catanzaro, 88100 Catanzaro, Italy
6 National Research Council, Institute for Biomedical Technologies, 20138 Milan, Italy
7 Medical Genetics, Department of Molecular Biology, University of Siena, 53100 Siena, Italy
8 Clinica Dermatologica Università di Siena, 53100 Siena, Italy
9 Università degli Studi di Milano, Dipartimento di Scienze e Tecnologie Biomediche, 20138 Milan, Italy
Abstract:
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