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A novel phenotype associated with cutis laxa,abnormal fat distribution,cardiomyopathy and cataract
Authors:Ellyze Van Asbeck  David F.G.J. Wolthuis  Miski Mohamed  Ron A. Wevers  Cristoph G. Korenke  Thatjana Gardeitchik  Eva Morava
Affiliation:1. Department of Pediatrics, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands;2. Hayward Genetics Center and Department of Pediatrics, Tulane University Medical School, New Orleans, Louisiana;3. Laboratory of Genetic, Endocrine and Metabolic Disease, Radboud University Nijmegen Medical Center, Nijmegen, Gelderland, Netherlands;4. Department of Neuropediatrics, Children's Hospital, Oldenburg, Germany
Abstract:
Keywords:cutis laxa  wrinkly skin syndrome  failure to thrive  cardiomyopathy  cataract  abnormal fat distribution
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