Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs.
Zumsteg
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U
Muller
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Miserez
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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
D001057:Apolipoproteins E