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Marfan syndrome: Report of a complex phenotype due to a 15q21.1 contiguos gene deletion encompassing FBN1, and literature review
Authors:Chiara Dordoni  Claudia Ciaccio  Graziano Santoro  Marina Venturini  Ugo Cavallari  Marco Ritelli  Marina Colombi
Affiliation:1. Division of Biology and Genetics, Department of Molecular and Translational Medicine, School of Medicine, University of Brescia, Brescia, Italy;2. Division of Dermatology, Department of Clinical and Experimental Sciences, Spedali Civili University Hospital, Brescia, Italy;3. Azienda Istituti Ospitalieri, Medical Genetics, Cremona, Italy
Abstract:
Keywords:15q21.1 microdeletion  Marfan syndrome  FBN1  gross rearrangement  MLPA  aCGH
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