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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… Click to show full 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 19–42 of TSC2 and exons 2–46 of PKD1. Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.
Keywords:
tsc2 pkd1;
gene syndrome;
contiguous gene;
molecular diagnosis;
infant;
pkd1 contiguous
Journal Title: Human Genome Variation
Year Published: 2020
Link to full text (if available)
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Journal Title: Human Genome Variation
Year Published: 2020
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!