Associated Papers
A novel nonsense PKD1L1 variant cause heterotaxy syndrome with congenital asplenia in a Han Chinese patient.
Gu H et al.
Journal of Human Genetics, 2022
Hydrops fetalis in PKD1L1-related heterotaxy: Report of two foetuses and expanding the phenotypic and molecular spectrum.
Correa ARE et al.
Annals of Human Genetics, 2021
Identification of Polycystic Kidney Disease 1 Like 1 Gene Variants in Children With Biliary Atresia Splenic Malformation Syndrome.
Berauer JP et al.
Hepatology (baltimore, Md.), 2019
Select a paper to view details