Phelan‐McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports

The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan‐McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare synd...

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Detalles Bibliográficos
Autores principales: Kothari, Cartik, Wack, Maxime, Hassen‐Khodja, Claire, Finan, Sean, Savova, Guergana, O'Boyle, Megan, Bliss, Geraldine, Cornell, Andria, Horn, Elizabeth J., Davis, Rebecca, Jacobs, Jacquelyn, Kohane, Isaac, Avillach, Paul
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2017
Materias:
Special Issue Collection
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5832521/
https://www.ncbi.nlm.nih.gov/pubmed/28862395
http://dx.doi.org/10.1002/ajmg.b.32579

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