Hum Genome Var
Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Tokushima Japan.
Published: July 2020
A 1-month-old Japanese infant with cardiac rhabdomyoma was diagnosed with / 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 and exons 2-46 of . Early molecular diagnosis can help to detect bilateral renal cyst formation and multidisciplinary follow-up of this multisystem disease.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363882 | PMC |
http://dx.doi.org/10.1038/s41439-020-0108-0 | DOI Listing |
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