Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.
Ja Young SeoJeong-Yeal AhnBhumsuk KeamMiso KimShinkyo YoonJae Lyun LeeKwonoh ParkInkeun ParkPublished in: Annals of laboratory medicine (2021)
We describe the genotypic and phenotypic spectrum in a small series of Korean patients with HLRCC. Our data reveal the unique characteristics of Korean patients with HLRCC and suggest a need for establishing an optimal diagnostic approach for them.
Keyphrases
- end stage renal disease
- single cell
- ejection fraction
- newly diagnosed
- chronic kidney disease
- stem cells
- genome wide
- prognostic factors
- papillary thyroid
- cell therapy
- electronic health record
- gene expression
- machine learning
- patient reported outcomes
- dna methylation
- mesenchymal stem cells
- young adults
- artificial intelligence