Ontology highlight
ABSTRACT:
SUBMITTER: Francis PJ
PROVIDER: S-EPMC1734631 | biostudies-other | 2000 Jul
REPOSITORIES: biostudies-other
Francis P J PJ Berry V V Bhattacharya S S SS Moore A T AT
Journal of medical genetics 20000701 7
Human congenital cataract has a diverse aetiology. In the proportion of cases where the cause is genetic, the disease shows wide phenotypic and genetic heterogeneity. Over the past few years, much research has been devoted to mapping the genes that underlie the disorder. This has been helped by the extensive array of naturally occurring and genetically engineered mouse cataract models and the abundance of human candidate genes. Most progress to date has been in the identification of genetic muta ...[more]