Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family

Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family

Abstract Background Tuberous sclerosis complex (TSC) is an autosomal dominant genetic condition that involves abnormalities of the skin, hamartomas in the heart, brain, and kidneys, seizures, as well as TSC‐associated neuropsychiatric disorders (TAND). About 90%–95% of individuals with TSC will have...

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Bibliographic Details
Main Authors: Kate Mowrey, Mary Kay Koenig, Charles A. Szabo, Joshua Samuels, Shannon Mulligan, Deborah A. Pearson, Hope Northrup
Format: Article
Language:English
Published: Wiley 2020-07-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
genetic counseling
genetic testing
TSC2
tuberous sclerosis complex
Online Access:https://doi.org/10.1002/mgg3.1296

Internet

https://doi.org/10.1002/mgg3.1296

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