Article
Adult index patient with Currarino syndrome due to a novel HLXB9 mutation, c.336dupG (p.P113fsX224), presenting with Hirschsprung's disease, cephalgia, and lumbodynia.
Birth defects research. Part A, Clinical and molecular teratology - 1 Mar 2007
Volk Alexander, Karbasiyan Mohsen, Semmler Alexander, Todt Unda, Urbach Horst, Klockgether Thomas, Linnebank Michael
Abstract excerpt
BACKGROUND: The symptom triad of autosomal dominant Currarino syndrome (CS; MIM #176450) consists of anorectal malformation, a sacral bone defect, and presacral masses. Mutations in the homeoboxHLXB9 gene have already been described in a subset of sacrococcygeal anomalies characterized by partial sacral agenesis. CASE: We report a 28-year-old male patient with Currarino syndrome due to a heterozygous novel...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.