Curated single gene sequence analysis according to the clinical suspicion Alstrom syndrome
- (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
Progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity associated with hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy, progressive hepatic + renal dysfunction.
- Alias: Alstrom syndrome, ALMS, ALSS
- Cone-rod dystrophy, sensorineur. hearing loss, obesity, hyperinsulinemia, type 2 diab. mell. (ALMS1)
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