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• W3116781476 startingPage "766" @default.
• W3116781476 abstract "Abstract Reports of patients with concomitant diagnoses of two inherited genetic disorders, sometimes referred to as “double trouble,” have appeared intermittently in the medical literature. We report eight additional cases with dual diagnoses of two genetic conditions. All cases had a phenotype atypical for their primary diagnosis, leading to the search for a second genetic diagnosis. These cases highlight the importance of the history, physical examination and continued work‐up if the phenotype of the patient falls drastically outside what has been reported with their primary diagnosis. Some of the diagnoses of the patients presented here (e.g., Myotonic Dystrophy Type 1, fascioscapulohumeral muscular dystrophy) would not have been identified by genetic testing done on a next generation sequencing backbone (e.g., panel or exome sequencing). When the clinical picture is atypical or more severe than expected the possibility of a dual diagnosis (double trouble) should be considered. Identification of a second genetic condition can impact management and genetic counseling." @default.
• W3116781476 created "2021-01-05" @default.
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• W3116781476 date "2020-12-24" @default.
• W3116781476 modified "2023-10-17" @default.
• W3116781476 title "Dual molecular diagnoses in a neurometabolic specialty clinic" @default.
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• W3116781476 doi "https://doi.org/10.1002/ajmg.a.62034" @default.
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