title: Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs.
authors.forename: U
authors.initials: U
authors.lastname: Zumsteg
authors.forename: P Y
authors.initials: PY
authors.lastname: Muller
authors.forename: A R
authors.initials: AR
authors.lastname: Miserez
mesh_terms: D000293:Adolescent; D001057:Apolipoproteins E / Q000235:genetics; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D003241:Consanguinity; D003924:Diabetes Mellitus, Type 2 / Q000097:blood / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics; D015228:Hypertriglyceridemia / Q000235:genetics; D008126:Lod Score; D008297:Male; D009765:Obesity / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D012174:Retinitis Pigmentosa / Q000235:genetics*; D013577:Syndrome
chemical_list: D001057:Apolipoproteins E