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Identification of the gene that, when mutated, causes the human obesity syndrome BBS4
- Publication Year :
- 2001
-
Abstract
- Bardet–Biedl syndrome (BBS, MIM 209900) is a heterogeneous autosomal recessive disorder characterized by obesity, pigmentary retinopathy, polydactyly, renal malformations, mental retardation, and hypogenitalism1,2,3,4. The disorder is also associated with diabetes mellitus, hypertension, and congenital heart disease4,5,6. Six distinct BBS loci map to 11q13 (BBS1), 16q21 (BBS2), 3p13–p12 (BBS3), 15q22.3–q23 (BBS4), 2q31 (BBS5), and 20p12 (BBS6)7,8,9,10,11,12,13. Although BBS is rare in the general population (
- Subjects :
- Expressed Sequence Tags
Genetics
BBS2
congenital, hereditary, and neonatal diseases and abnormalities
Polydactyly
Positional cloning
BBS7
Molecular Sequence Data
BBS10
BBS5
Proteins
Biology
medicine.disease
MKKS
Consanguinity
Bardet–Biedl syndrome
Mutation
medicine
Humans
Obesity
Cloning, Molecular
Bardet-Biedl Syndrome
Microtubule-Associated Proteins
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.doi.dedup.....86b5bcdf1b5dd609bd9ac8da37c81680