A Chinese patient with Rothmund-Thomson syndrome.
Juan ZengJiayi LiYuwei LiuRui LiangLin WangQing ZhouJinghua SunZhongzhen LiuWen-Jing WangSujun ZhuPublished in: Molecular genetics & genomic medicine (2023)
Our study expands the mutational spectrum of the RECQL4 gene and enriches the phenotype spectrum of Chinese RTS patients. Our information can assist the patient's parents in making informed decisions regarding their future pregnancies. This case offers a new perspective for clinicians to consider whether to perform prenatal diagnosis.
Keyphrases
- case report
- end stage renal disease
- newly diagnosed
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- palliative care
- current status
- gene expression
- genome wide
- preterm birth
- pregnant women
- patient reported outcomes
- health information
- gestational age
- transcription factor
- pregnancy outcomes