Ontology highlight
ABSTRACT:
SUBMITTER: Valleix S
PROVIDER: S-EPMC1559477 | biostudies-literature | 2006 Aug
REPOSITORIES: biostudies-literature
Valleix Sophie S Niel Florence F Nedelec Brigitte B Algros Marie-Paule MP Schwartz Claire C Delbosc Bernard B Delpech Marc M Kantelip Bernadette B
American journal of human genetics 20060608 2
Congenital primary aphakia (CPA) is a rare developmental disorder characterized by the absence of lens, the development of which is normally induced during the 4th-5th wk of human embryogenesis. This original failure leads, in turn, to complete aplasia of the anterior segment of the eye, which is the diagnostic histological criterion for CPA. So far, the genetic basis for this human condition has remained unclear. Here, we present the analysis of a consanguineous family with three siblings who h ...[more]