Article
Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
American journal of human genetics - 7 Oct 2011
Talkowski Michael E, Mullegama Sureni V, Rosenfeld Jill A, van Bon Bregje W M, Shen Yiping, Repnikova Elena A, Gastier-Foster Julie, Thrush Devon Lamb, Kathiresan Sekar, Ruderfer Douglas M, Chiang Colby, Hanscom Carrie, Ernst Carl, Lindgren Amelia M, Morton Cynthia C, An Yu, Astbury Caroline, Brueton Louise A, Lichtenbelt Klaske D, Ades Lesley C, Fichera Marco, Romano Corrado, Innis Jeffrey W, Williams Charles A, Bartholomew Dennis, Van Allen Margot I, Parikh Aditi, Zhang Lilei, Wu Bai-Lin, Pyatt Robert E, Schwartz Stuart, Shaffer Lisa G, de Vries Bert B A, Gusella James F, Elsea Sarah H
Abstract excerpt
Persons with neurodevelopmental disorders or autism spectrum disorder (ASD) often harbor chromosomal microdeletions, yet the individual genetic contributors within these regions have not been systematically evaluated. We established a consortium of clinical diagnostic and research laboratories to accumulate a large cohort with genetic alterations of chromosomal region 2q23.1 and acquired 65 subjects with...
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