Development and Validation of a Computable Phenotype for Turner Syndrome Utilizing Electronic Health Records from a National Pediatric Network

Turner syndrome (TS) is a genetic condition occurring in ~1 in 2,000 females characterized by the complete or partial absence of the second sex chromosome. TS research faces similar challenges to many other pediatric rare disease conditions, with homogenous, single-center, underpowered studies. Seco...

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Detalles Bibliográficos
Autores principales: Huang, Sarah D., Bamba, Vaneeta, Bothwell, Samantha, Fechner, Patricia Y., Furniss, Anna, Ikomi, Chijioke, Nahata, Leena, Nokoff, Natalie J, Pyle, Laura, Seyoum, Helina, Davis, Shanlee M
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10371114/
https://www.ncbi.nlm.nih.gov/pubmed/37502850
http://dx.doi.org/10.1101/2023.07.19.23292889

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