Ontology highlight
ABSTRACT:
SUBMITTER: Alasti F
PROVIDER: S-EPMC2427268 | biostudies-literature | 2008 Apr
REPOSITORIES: biostudies-literature
Alasti Fatemeh F Sadeghi Abdorrahim A Sanati Mohammad Hossein MH Farhadi Mohammad M Stollar Elliot E Somers Thomas T Van Camp Guy G
American journal of human genetics 20080401 4
Microtia, a congenital deformity manifesting as an abnormally shaped or absent external ear, occurs in one out of 8,000-10,000 births. We ascertained a consanguineous Iranian family segregating with autosomal-recessive bilateral microtia, mixed symmetrical severe to profound hearing impairment, and partial cleft palate. Genome-wide linkage analysis localized the responsible gene to chromosome 7p14.3-p15.3 with a maximum multi-point LOD score of 4.17. In this region, homeobox genes from the HOXA ...[more]