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XYLT1 Mutations in Desbuquois Dysplasia Type 2
Authors:Catherine Bui  Céline Huber  Beyhan Tuysuz  Yasemin Alanay  Christine Bole-Feysot  Jules G Leroy  Geert Mortier  Patrick Nitschke  Arnold Munnich  Valérie Cormier-Daire
Institution:1 Department of Genetics, INSERM U781, Université Paris Descartes- Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades (AP-HP), Paris 75015, France;2 Department of Pediatric Genetics, Cerrahpasa Medical Faculty, Istanbul University, Istanbul 34098, Turkey;3 Pediatric Genetics Unit, Department of Pediatrics, School of Medicine, Acibadem University, Istanbul 34457, Turkey;4 Plateforme de Génomique, Fondation IMAGINE, Paris 75015, France;5 Greenwood Genetic Center, Greenwood, SC 29646, USA;6 Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Edegem 2650, Belgium;7 Plateforme de Bioinformatique, Université Paris Descartes, Paris 75015, France
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