Various phenotypes of LRBA gene with compound heterozygous variation: A case series report of pediatric cytopenia patients.

Jiafeng YaoLingLing FuWenjun MouZhenping ChenJie MaHonghao MaNan LiRui ZhangTianyou WangJin JiangRunhui Wu

Published in: International journal of immunopathology and pharmacology (2022)

Unlike homozygous mutations, compound heterozygous LRBA variation should always be kept in mind for the various phenotypes and different treatment responses.

Keyphrases

end stage renal disease
early onset
newly diagnosed
ejection fraction
chronic kidney disease
peritoneal dialysis
prognostic factors
copy number
patient reported outcomes