Conclusions: Bile duct ligation of the Pkd1l1-deficient mouse model mirrors several aspects
of the intrahepatic pathophysiology of biliary atresia in humans including bile duct …

Background & Aims Syndromic biliary atresia is a cholangiopathy characterized by fibro-
obliterative changes in the extrahepatic bile duct (EHBD) and congenital malformations …

Introduction Nonimmune hydrops fetalis (NIHF) has varied etiology. We assessed the
etiological spectrum and evaluated the utility of fetal whole exome sequencing (fWES) for …

Laterality defects are defined by the perturbed left–right arrangement of organs in the body,
occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is …

Heterotaxy syndrome is a very rare congenital disease, which is caused by the disorder of
left-right asymmetry during visceral development. However, pathogenic genetic lesions are …

Heterotaxy is a congenital disorder characterized by abnormal arrangement of formation of
thoracic and abdominal organs due to errors in embryonic left-right patterning, affecting~ 1 …