Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Human Genome Variation"
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
The prospect of novel orphan therapeutic protocol for TSC2/PKD1 contiguous gene syndrome: a case report
Sign Up to like & getrecommendations! Published in 2025 at "BMC Nephrology"
DOI: 10.1186/s12882-025-04088-1
Abstract: Autosomal dominant polycystic kidney disease (ADPKD, OMIM # 601313, # 173900) and tuberous sclerosis complex (TSC2, OMIM # 191092, #613254) are inherited multisystemic diseases that rarely associate. Large deletion on chromosome 16 can result in… read more here.
Keywords: disease; tsc2; contiguous gene; pkd1 contiguous ... See more keywords