Two different genetic etiologies for tuberous sclerosis complex (TSC) in a single family.
Kate MowreyMary Kay KoenigCharles Ákos SzaboJoshua A SamuelsShannon MulliganDeborah A PearsonHope NorthrupPublished in: Molecular genetics & genomic medicine (2020)
To our knowledge, our clinical report is of significance as it is the third kindred to be identified with affected members with two distinct genetic etiologies for TSC. Our case report highlights the importance of incorporating genetic testing into the clinical evaluation for individuals with features suggestive of TSC.