Deep phenotyping in 3q29 deletion syndrome: recommendations for clinical care

PURPOSE: To understand the consequences of the 3q29 deletion on medical, neurodevelopmental, psychiatric, brain structural, and neurological sequalae by systematic evaluation of affected individuals. To develop evidence-based recommendations using these data for effective clinical care. METHODS: Thi...

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Publicat a:Genet Med
Autors principals: Sanchez Russo, Rossana, Gambello, Michael J., Murphy, Melissa M., Aberizk, Katrina, Black, Emily, Burrell, T. Lindsey, Carlock, Grace, Cubells, Joseph F., Epstein, Michael T., Espana, Roberto, Goines, Katrina, Guest, Ryan M., Klaiman, Cheryl, Koh, Sookyong, Leslie, Elizabeth J., Li, Longchuan, Novacek, Derek M., Saulnier, Celine A., Sefik, Esra, Shultz, Sarah, Walker, Elaine, White, Stormi Pulver, Mulle, Jennifer Gladys
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group US 2021
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8105170/
https://ncbi.nlm.nih.gov/pubmed/33564151
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-020-01053-1
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