| Literature DB >> 33419995 |
Keita Osumi1, Kenichi Suga2, Akemi Ono2, Aya Goji2, Tatsuo Mori2, Yukiko Kinoshita2, Mikio Sugano3, Yoshihiro Toda2, Maki Urushihara2, Ryuji Nakagawa2, Yasunobu Hayabuchi2, Issei Imoto4,5, Shoji Kagami2.
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.Year: 2020 PMID： 33419995 DOI： 10.1038/s41439-020-0108-0
Source DB: PubMed Journal: Hum Genome Var ISSN： 2054-345X