Ontology highlight
ABSTRACT:
SUBMITTER: Ozcelik T
PROVIDER: S-EPMC2393756 | biostudies-literature | 2008 Mar
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20080307 11
Quadrupedal gait in humans, also known as Unertan syndrome, is a rare phenotype associated with dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia. Four large consanguineous kindreds from Turkey manifest this phenotype. In two families (A and D), shared homozygosity among affected relatives mapped the trait to a 1.3-Mb region of chromosome 9p24. This genomic region includes the VLDLR gene, which encodes the very low-density lipoprotein receptor, a componen ...[more]