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Comprehensive phenotyping of neuropsychiatric traits in a multiplex 3q29 deletion family: a case report

BACKGROUND: 3q29 deletion syndrome is associated with a range of medical, neurodevelopmental, and psychiatric phenotypes. The deletion is usually de novo but cases have been reported where the deletion is inherited from apparently unaffected parents. The presence of these unaffected or mildly affect...

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Detalles Bibliográficos
Autores principales: Murphy, Melissa M., Burrell, T. Lindsey, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Gambello, Michael J., Goines, Katrina, Klaiman, Cheryl, Koh, Sookyong, Russo, Rossana Sanchez, Saulnier, Celine A., Walker, Elaine, Mulle, Jennifer Gladys
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7179007/
https://www.ncbi.nlm.nih.gov/pubmed/32321479
http://dx.doi.org/10.1186/s12888-020-02598-w