A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype

Ann Neurol. 2018 Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7.

Marie-Laure Vuillaume^{1

2}, Médéric Jeanne^{1

2}, Li Xue³, Sophie Blesson¹, Anne-Sophie Denommé-Pichon^{4

5}, Servane Alirol², Céline Brulard^{2

6}, Estelle Colin^{4

5}, Bertrand Isidor^{7

8}, Brigitte Gilbert-Dussardier^{9

10}, Sylvie Odent^{11

12}, Philippe Parent¹³, Audrey Donnart¹⁴, Richard Redon¹⁴, Stéphane Bézieau^{7

15}, Philippe Rondard³, Frédéric Laumonnier^{1

2}, Annick Toutain^{1

2}

¹ Genetics Department, University Hospital Center, Tours.
² UMR 1253, iBrain, University of Tours, Inserm, Tours, France.
³ Institute of Functional Genomics, CNRS UMR5203, INSERM U1191, Montpellier University, Montpellier.
⁴ Genetics Department.
⁵ UMR INSERM 1083 - CNRS 6015, Faculty of Medicine, Angers University, Angers, France.
⁶ Platform for Cancer Molecular Biology, University Hospital Center, Tours, France.
⁷ Genetics Department, University Hospital Center, Nantes, France.
⁸ INSERM, UMR-S 1238, Nantes University, Nantes, France.
⁹ Genetics Department, University Hospital Center, Poitiers, France.
¹⁰ EA 3808, Poitiers University, Poitiers.
¹¹ Genetics Department, University Hospital Center, Rennes, France.
¹² CNRS UMR 6290 Institute of Genetics and Development of Rennes, Faculty of Medicine, Rennes 1 University, Rennes.
¹³ Genetics Department, University Hospital Center, Brest, France.
¹⁴ INSERM, CNRS, Nantes University, University Hospital Center, Thorax Institute, Nantes, France.
¹⁵ Center for Research in Cancer and Immunology, INSERM, Angers University, Nantes University, Nantes, France.

No abstract available

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