A novel PKHD1 splicing variant identified in a fetus with autosomal recessive polycystic kidney disease

por Miao, Mingzhu, Feng, Liqun, Wang, Jue, Xu, Cheng, Su, Xiaotian, Zhang, Guoying, Lu, Shoulian
Publicado 2023

Identification of a novel heterozygous missense TP63 variant in a Chinese pedigree with split-hand/foot malformation

por Miao, Mingzhu, Lu, Shoulian, Sun, Xiao, Zhao, Meng, Wang, Jue, Su, Xiaotan, Jin, Bai, Sun, Lizhou
Publicado 2022