Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
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DOI: 10.1038/s41439-020-0108-0
Abstract: A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with TSC2/PKD1 contiguous gene syndrome by targeted panel sequencing with subsequent quantitative polymerase chain reaction that revealed gross monoallelic deletion, including parts of two genes: exons… read more here.
Keywords: tsc2 pkd1; gene syndrome; contiguous gene; molecular diagnosis ... See more keywords