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Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5994080/
https://www.ncbi.nlm.nih.gov/pubmed/29884173
http://dx.doi.org/10.1186/s12888-018-1760-5