Comprehensive analysis on phenotype and genetic basis of Chinese Fanconi anemia patients: dismal outcomes call for nationwide studies.

Daijing NieJing ZhangFang WangWei ZhangLili LiuXue ChenYang ZhangPanxiang CaoMin XiongTong WangPing WuXiaoli MaWenjun TianMangju WangKylan N ChenHongxing Liu

Published in: BMC medical genetics (2020)

The phenotypic and genetic spectrum of Chinese FA patients is broad. Bone marrow dysplasia and cytogenetic abnormalities are prevalent and highly consistent. The overall outcome of HSCTs is disappointing. Nationwide multicenter studies are needed for the rarity and adverse outcome of this disease.

Keyphrases

end stage renal disease
chronic kidney disease
bone marrow
ejection fraction
newly diagnosed
prognostic factors
peritoneal dialysis
genome wide
type diabetes
emergency department
adipose tissue
copy number
patient reported
weight loss