Cargando…
MON-249 Algorithm-Driven Electronic Health Record Notification Enhances the Detection of Turner Syndrome
BACKGROUND: Turner syndrome (TS) results from a complete or partial loss of the second X chromosome and affects 25-50 per 100,000 females. TS is common in females with unexplained short stature, but the diagnosis is often not made until late childhood (8-9 years) if classic features are not present...
Autores principales: | Alexandrou, Eirene, Cabrera-Salcedo, Catalina, Labilloy, Guillaume, Tyzinski, Leah, Smolarek, Teresa, Andrew, Melissa, Huang, Yongbo, Backeljauw, Philippe, Dauber, Andrew |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Endocrine Society
2019
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6551104/ http://dx.doi.org/10.1210/js.2019-MON-249 |
Ejemplares similares
-
OR07-6 Integrating Targeted Bioinformatic Searches of the Electronic Health Records and Genomic Testing Identifies a Molecular Diagnosis in Three Patients with Undiagnosed Short Stature
por: Cabrera Salcedo, Catalina, et al.
Publicado: (2019) -
Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research
por: Mitsch, Cameron, et al.
Publicado: (2023) -
OR18-6 Tracking the Diagnosis and Progression of Madelung Deformity in Pediatric Turner Syndrome Patients
por: Backeljauw, Philippe F, et al.
Publicado: (2022) -
MON-072 A 2 -Year Old Girl with Turner Syndrome and Neurofibromatosis Type 1
por: Dermitzaki, Eleni, et al.
Publicado: (2020) -
MON-105 A Case Report of Neonatal Hyperinsulinism in an Infant with Turner Syndrome Successfully Treated with Diazoxide
por: Patterson, Rebecca J, et al.
Publicado: (2020)