Article
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia.
Human mutation - 1 Jun 2015
Tsai Ellen A, Grochowski Christopher M, Falsey Alexandra M, Rajagopalan Ramakrishnan, Wendel Danielle, Devoto Marcella, Krantz Ian D, Loomes Kathleen M, Spinner Nancy B
Abstract excerpt
Biliary atresia (BA) is a pediatric cholangiopathy with unknown etiology occurring in isolated and syndromic forms. Laterality defects affecting the cardiovascular and gastrointestinal systems are the most common features present in syndromic BA. Most cases are sporadic, although reports of familial cases have led to the hypothesis of genetic susceptibility in some patients. We identified a child with BA,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.