Ontology highlight
ABSTRACT:
SUBMITTER: Toren A
PROVIDER: S-EPMC1288382 | biostudies-literature | 1999 Dec
REPOSITORIES: biostudies-literature
Toren A A Amariglio N N Rozenfeld-Granot G G Simon A J AJ Brok-Simoni F F Pras E E Rechavi G G
American journal of human genetics 19991201 6
Fechtner syndrome is an autosomal-dominant variant of Alport syndrome, manifested by nephritis, sensorineural hearing loss, cataract formation, macrothrombocytopenia, and polymorphonuclear inclusion bodies. As opposed to autosomal-recessive and X-linked Alport syndromes, which have been genetically well studied, the genetic basis of Fechtner syndrome remains elusive. We have mapped the disease-causing gene to the long arm of chromosome 22 in an extended Israeli family with Fechtner syndrome plus ...[more]