Article
Alström syndrome.
European journal of human genetics : EJHG - 1 Dec 2007
Marshall Jan D, Beck Sebastian, Maffei Pietro, Naggert Jürgen K
Abstract excerpt
Alström Syndrome is an autosomal recessive, single gene disorder caused by mutations in ALMS1 (Chr 2p13), a novel gene of currently unknown molecular function. Alström Syndrome is multisystemic, with cone-rod retinal dystrophy leading to juvenile blindness, sensorineural hearing loss, obesity, insulin resistance with hyperinsulinemia, and type 2 diabetes mellitus. Very high incidences of additional disease...
Topics
- Abnormalities, Multiple
- Diagnosis, Differential
- Follow-Up Studies
- Genetic Counseling
- Humans
- Mutation
- Syndrome