Case Report: Congenital Brain Dysplasia, Developmental Delay and Intellectual Disability in a Patient With a 7q35-7q36.3 Deletion

por Fan, Liang-Liang, Sheng, Yue, Wang, Chen-Yu, Li, Ya-Li, Liu, Ji-Shi
Publicado 2021

A novel heterozygous variant of the COL4A4 gene in a Chinese family with hematuria and proteinuria leads to focal segmental glomerulosclerosis and chronic kidney disease

por Fan, Liang‐Liang, Liu, Lv, Luo, Fang‐Mei, Du, Ran, Wang, Chen‐Yu, Dong, Yi, Liu, Ji‐Shi
Publicado 2020

Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells

por Fan, Liang-Liang, Du, Ran, Liu, Ji-Shi, Jin, Jie-Yuan, Wang, Chen-Yu, Dong, Yi, He, Wan-Xia, Yan, Ri-Qiang, Xiang, Rong
Publicado 2022