Ontology highlight
ABSTRACT:
SUBMITTER: Pober BR
PROVIDER: S-EPMC2882234 | biostudies-literature | 2009 Jan
REPOSITORIES: biostudies-literature
Birth defects research. Part A, Clinical and molecular teratology 20090101 1
Mutations in the gene LRP2 have recently been identified as the cause of Donnai-Barrow and Facio-oculo-acoustico-renal (DB/FOAR) syndrome. More than two dozen cases, the first reported more than 30 years ago by Holmes, have been published. Summarizing available information, we highlight the cardinal features of the disorder found in >or=90% of published cases. These features include: agenesis of the corpus callosum, developmental delay, enlarged anterior fontanelle, high myopia, hypertelorism, p ...[more]