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Xq25 duplications encompassing GRIA3 and STAG2 genes in two families convey recognizable X‐linked intellectual disability with distinctive facial appearance |
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| Authors: | Anne Philippe Valérie Malan Marie‐Line Jacquemont Nathalie Boddaert Jean‐Paul Bonnefont Sylvie Odent Arnold Munnich Laurence Colleaux Valérie Cormier‐Daire |
| Affiliation: | 1. Université Paris Descartes, INSERM U 781 & Département de Génétique, H?pital Necker‐Enfants Malades, Paris, France;2. Service d'Imagerie Pédiatrique, H?pital Necker‐Enfants Malades, Paris, France;3. Université Rennes1, UMR6061 CNRS & Service de Génétique Clinique, Centre Hospitalier Universitaire de Rennes, H?pital Sud, Rennes, France |
| Abstract: | |
| Keywords: | GRIA3 STAG2 developmental delay facial dysmorphism |