Ontology highlight
ABSTRACT:
SUBMITTER: Abu A
PROVIDER: S-EPMC2427192 | biostudies-literature | 2008 May
REPOSITORIES: biostudies-literature
Abu Almogit A Frydman Moshe M Marek Dina D Pras Eran E Nir Uri U Reznik-Wolf Haike H Pras Elon E
American journal of human genetics 20080501 5
Brittle cornea syndrome (BCS) is an autosomal-recessive disorder characterized by a thin cornea that tends to perforate, causing progressive visual loss and blindness. Additional systemic symptoms such as joint hypermotility, hyperlaxity of the skin, and kyphoscoliosis place BCS among the connective-tissue disorders. Previously, we assigned the disease gene to a 4.7 Mb interval on chromosome 16q24. In order to clone the BCS gene, we first narrowed the disease locus to a 2.8 Mb interval and syste ...[more]