Publication
Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
Aikaterini Dimopoulou, Björn Fischer, Thatjana Gardeitchik, Phillipe Schröter, Hülya Kayserili, Claire Schlack, Yun Li, Jaime Moritz Brum, Ingeborg Barisic, Marco Castori, Christiane Spaich, Elaine Fletcher, Zeina Mahayri, Meenakshi Bhat, Katta M. Girisha, Katherine Lachlan, Diana Johnson, Shubha Phadke, Neerja Gupta, Martina Simandlova, Madhulika Kabra, Albert David, Leo Nijtmans, David Chitayat, Beyhan Tuysuz, Francesco Brancati, Stefan Mundlos, Lionel Van Maldergem, Eva Morava, Bernd Wollnik, Uwe Kornak
Molecular Genetics and Metabolism, November 2013, Elsevier
DOI: 10.1016/j.ymgme.2013.08.009