Novel MNX1 mutations and clinical analysis of familial and sporadic Currarino cases.

Abstract excerpt

Currarino Syndrome (CS) is a rare congenital malformation characterized by three major clinical aspects: sacral anomalies, anorectal malformation and presacral mass. In familial settings the disorder is transmitted as autosomal dominant trait, with a wide phenotype variability and low penetrance. The causative gene of CS is the motor neuron and pancreas homeobox-1 (MNX1), mapped at 7q36, and coding for a...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Anal Canal
• Share to Cohort Studies
• Share to Congenital gastrointestinal and neural anomalies