Ontology highlight
ABSTRACT:
SUBMITTER: Perez Y
PROVIDER: S-EPMC3992574 | biostudies-literature | 2014 May
REPOSITORIES: biostudies-literature
Perez Yonatan Y Gradstein Libe L Flusser Hagit H Markus Barak B Cohen Idan I Langer Yshaia Y Marcus Mira M Lifshitz Tova T Kadir Rotem R Birk Ohad S OS
European journal of human genetics : EJHG 20130918 5
Foveal hypoplasia, always accompanied by nystagmus, is found as part of the clinical spectrum of various eye disorders such as aniridia, albinism and achromatopsia. However, the molecular basis of isolated autosomal recessive foveal hypoplasia is yet unknown. Individuals of apparently unrelated non consanguineous Israeli families of Jewish Indian (Mumbai) ancestry presented with isolated foveal hypoplasia associated with congenital nystagmus and reduced visual acuity. Genome-wide homozygosity ma ...[more]