Article
Neuropsychiatric phenotypes and a distinct constellation of ASD features in 3q29 deletion syndrome: results from the 3q29 registry.
Molecular autism - 1 Jan 2019
Pollak Rebecca M, Murphy Melissa M, Epstein Michael P, Zwick Michael E, Klaiman Cheryl, Saulnier Celine A, Mulle Jennifer G
Abstract excerpt
Background: The 1.6 Mb 3q29 deletion is associated with neurodevelopmental and psychiatric phenotypes, including increased risk for autism spectrum disorder (ASD) and a 20 to 40-fold increased risk for schizophrenia. However, the phenotypic spectrum of the deletion, particularly with respect to ASD, remains poorly described. Methods: We ascertained individuals with 3q29 deletion syndrome (3q29Del, "cases,"...
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