Article
Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.
BMC psychiatry - 8 Jun 2018
Murphy Melissa M, Lindsey Burrell T, Cubells Joseph F, España Roberto Antonio, Gambello Michael J, Goines Katrina C B, Klaiman Cheryl, Li Longchuan, Novacek Derek M, Papetti Ava, Sanchez Russo Rossana Lucia, Saulnier Celine A, Shultz Sarah, Walker Elaine, Mulle Jennifer Gladys
Abstract excerpt
BACKGROUND: 3q29 deletion syndrome is caused by a recurrent hemizygous 1.6 Mb deletion on the long arm of chromosome 3. The syndrome is rare (1 in 30,000 individuals) and is associated with mild to moderate intellectual disability, increased risk for autism and anxiety, and a 40-fold increased risk for schizophrenia, along with a host of physical manifestations. However, the disorder is poorly characterized, the...
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