Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

Human genetic disorders, such as Down syndrome, have a wide variety of clinical phenotypic presentations, and characterizing each nuanced phenotype and subtype can be difficult. In this study, we examined the electronic health records of 4095 individuals with Down syndrome at the Children’s Hospital...

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Detalles Bibliográficos
Autores principales: Havrilla, James Margolin, Zhao, Mengge, Liu, Cong, Weng, Chunhua, Helbig, Ingo, Bhoj, Elizabeth, Wang, Kai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393657/
https://www.ncbi.nlm.nih.gov/pubmed/34440331
http://dx.doi.org/10.3390/genes12081159

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8393657/
https://www.ncbi.nlm.nih.gov/pubmed/34440331
http://dx.doi.org/10.3390/genes12081159

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