The TSC2 c.2742+5G>A variant causes variable splicing changes and clinical manifestations in a family with tuberous sclerosis complex
BackgroundTuberous sclerosis complex (TSC) is a genetic, variably expressed, multisystem disease characterized by benign tumors. It is caused by pathogenic variants of the TSC complex subunit 1 gene (TSC1) and the TSC complex subunit 2 gene (TSC2). Genetic testing allows for early diagnosis, genetic...
Main Authors: | , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2023-04-01
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Series: | Frontiers in Molecular Neuroscience |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fnmol.2023.1091323/full |