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Exon 2 duplication of the MID1 gene in a patient with a mild phenotype of Opitz G/BBB syndrome
Authors:Irina Hüning  Kerstin Kutsche  Saideh Rajaei  Anna Erlandsson  Lovisa Lovmar  Julia Rundberg  Margarita Stefanova
Affiliation:1. Division of Metabolic Diseases, Department of Woman and Child Health, University Hospital of Padua, Via Giustiniani 3 35128 Padua, Italy;2. Division of Neurology, St. Bassiano Hospital, Bassano del Grappa, Via dei Lotti 40 I-36061 Bassano del Grappa, Italy;3. Division of Clinical Chemistry and Biochemistry, University Children''s Hospital Zürich, Steinwiesstraße 75, 8032 Zürich, Switzerland;4. Laboratory of Clinical Biochemistry and Metabolism, University of Freiburg Children''s Hospital Freiburg, Germany;5. Division of Neuroradiology, University of Salerno, via Salvador Allende 1, 84081 Baronissi, Italy
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