Ontology highlight
ABSTRACT:
SUBMITTER: El-Jaick KB
PROVIDER: S-EPMC1820763 | biostudies-literature | 2007 Jan
REPOSITORIES: biostudies-literature
Molecular genetics and metabolism 20060907 1
Holoprosencephaly (HPE) is the most common structural malformation of the forebrain and face in humans. Our current understanding of the pathogenesis of HPE attempts to integrate genetic susceptibility, evidenced by mutations in the known HPE genes, with the epigenetic influence of environmental factors. Mutations or deletions of the human TGIF gene have been associated with HPE in multiple population cohorts. Here we examine the functional effects of all previously reported mutations, and descr ...[more]