Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder

Michael E. Talkowski; Sureni V. Mullegama; Jill A. Rosenfeld; Bregje W.M. van Bon; Yiping Shen; Elena A. Repnikova; Julie Gastier-Foster; Devon Lamb Thrush; Sekar Kathiresan; Douglas M. Ruderfer; Colby Chiang; Carrie Hanscom; Carl Ernst; Amelia M. Lindgren; Cynthia C. Morton; Yu An; Caroline Astbury; Louise A. Brueton; Klaske D. Lichtenbelt; Lesley C. Ades; Marco Fichera; Corrado Romano; Jeffrey W. Innis; Charles A. Williams; Dennis Bartholomew; Margot I. Van Allen; Aditi Parikh; Lilei Zhang; Bai-Lin Wu; Robert E. Pyatt; Stuart Schwartz; Lisa G. Shaffer; Bert B.A. de Vries; James F. Gusella; Sarah H. Elsea

作者Michael E. Talkowski; Sureni V. Mullegama; Jill A. Rosenfeld; Bregje W.M. van Bon; Yiping Shen; Elena A. Repnikova; Julie Gastier-Foster; Devon Lamb Thrush; Sekar Kathiresan; Douglas M. Ruderfer; Colby Chiang; Carrie Hanscom; Carl Ernst; Amelia M. Lindgren; Cynthia C. Morton; Yu An; Caroline Astbury; Louise A. Brueton; Klaske D. Lichtenbelt; Lesley C. Ades; Marco Fichera; Corrado Romano; Jeffrey W. Innis; Charles A. Williams; Dennis Bartholomew; Margot I. Van Allen; Aditi Parikh; Lilei Zhang; Bai-Lin Wu; Robert E. Pyatt; Stuart Schwartz; Lisa G. Shaffer; Bert B.A. de Vries; James F. Gusella; Sarah H. Elsea
卷第89卷
期第4期
印刷ISSN0002-9297
电子ISSN1537-6605
文件大小905.09KB
发表时间2011
DOI10.1016/j.ajhg.2011.09.011
页码551-563

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Assessment of 2q23.1 Microdeletion Syndrome Implicates MBD5 as a Single Causal Locus of Intellectual Disability, Epilepsy, and Autism Spectrum Disorder