2020年
Molecular diagnosis of an infant with TSC2/PKD1 contiguous gene syndrome.
Human genome variation
- 巻
- 7
- 号
- 開始ページ
- 21
- 終了ページ
- 21
- 記述言語
- 英語
- 掲載種別
- 研究論文(学術雑誌)
- DOI
- 10.1038/s41439-020-0108-0
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.
- リンク情報
- ID情報
-
- DOI : 10.1038/s41439-020-0108-0
- PubMed ID : 32695431
- PubMed Central 記事ID : PMC7363882