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A new osteochondrodysplasia with severe osteopenia,preaxial polydactyly,clefting and dysmorphic features resembling filamin-related disorders |
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| Authors: | Marina Colombani Nicole Laurent Martine Le Merrer Anne-Lise Delezoide Christel Thauvin-Robinet Frédéric Huet Paul Sagot Stéphanie Couvreur Thierry Rousseau Stephen P Robertson Laurence Faivre |
| Institution: | 1. Département de Génétique, Hôpital d'Enfants, Dijon, France;2. Service d'Anatomopathologie, CHU le Bocage, Dijon, France;3. Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France;4. Service d'Histo-embryologie, Hôpital Robert-Debré, Paris, France;5. Centre pluridisciplinaire de diagnostic prénatal, Maternité Le Bocage, Dijon, France;6. Department of Paediatrics, University of Otago, Dunedin, New Zealand |
| Abstract: | |
| Keywords: | osteochondrodysplasia osteopenia preaxial polydactyly filaminopathy |