CLINICAL REPORT Duplication 16p11.2 in a Child With Infantile Seizure Disorder
نویسندگان
چکیده
Duplication 16p11.2 in a Child With Infantile Seizure Disorder Jirair K. Bedoyan, Ravinesh A. Kumar, Jyotsna Sudi, Faye Silverstein, Todd Ackley, Ramaswamy K. Iyer, Susan L. Christian, and Donna M. Martin* Department of Pediatrics, The University of Michigan, Ann Arbor, Michigan Department of Human Genetics, The University of Chicago, Chicago, Illinois Department of Pathology, The University of Michigan, Ann Arbor, Michigan Department of Human Genetics, The University of Michigan, Ann Arbor, Michigan
منابع مشابه
Duplication 16p11.2 in a child with infantile seizure disorder.
Submicroscopic recurrent 16p11.2 rearrangements are associated with several neurodevelopmental disorders, including autism, mental retardation, and schizophrenia. The common 16p11.2 region includes 24 known genes, of which 22 are expressed in the developing human fetal nervous system. As yet, the mechanisms leading to neurodevelopmental abnormalities and the broader phenotypes associated with d...
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