Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting
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DOI: 10.1002/humu.24454
Abstract: Tuberous sclerosis complex (TSC) is a multi‐system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10%–15% patients do not have TSC1/TSC2 mutations detected on routine clinical genetic testing. We investigated the… read more here.
Keywords: tuberous sclerosis; mosaicism tuberous; mosaicism; tsc1 tsc2 ... See more keywords