Ontology highlight
ABSTRACT:
SUBMITTER: Lynch SA
PROVIDER: S-EPMC1734652 | biostudies-other | 2000 Aug
REPOSITORIES: biostudies-other
Journal of medical genetics 20000801 8
Autosomal dominant sacral agenesis is characterised by a partial agenesis of the sacrum typically involving sacral vertebrae S2-S5 only. Associated features include anorectal malformation, a presacral mass, and urogenital malformation. Together, these features have been defined as the Currarino syndrome. Recently, HLXB9 has been identified as the major causative gene in Currarino syndrome allowing identification of asymptomatic heterozygotes. In this review, we have performed an analysis of medi ...[more]