Article
DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis.
Human mutation - 1 Oct 2016
Girard Muriel, Bizet Albane A, Lachaux Alain, Gonzales Emmanuel, Filhol Emilie, Collardeau-Frachon Sophie, Jeanpierre Cécile, Henry Charline, Fabre Monique, Viremouneix Loic, Galmiche Louise, Debray Dominique, Bole-Feysot Christine, Nitschke Patrick, Pariente Danièle, Guettier Catherine, Lyonnet Stanislas, Heidet Laurence, Bertholet Aurelia, Jacquemin Emmanuel, Henrion-Caude Alexandra, Saunier Sophie
Abstract excerpt
Neonatal sclerosing cholangitis (NSC) is a rare biliary disease leading to liver transplantation in childhood. Patients with NSC and ichtyosis have already been identified with a CLDN1 mutation, encoding a tight-junction protein. However, for the majority of patients, the molecular basis of NSC remains unknown. We identified biallelic missense mutations or in-frame deletion in DCDC2 in four affected children....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.