A Chinese patient with Rothmund-Thomson syndrome.

Juan ZengJiayi LiYuwei LiuRui LiangLin WangQing ZhouJinghua SunZhongzhen LiuWen-Jing WangSujun Zhu

Published 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
ejection fraction
chronic kidney disease
newly diagnosed
palliative care
prognostic factors
preterm birth
copy number
dna methylation