Heterogeneity and causation of organ dysfunction in Alström syndrome
✍ Scribed by R Paisey, C Carey, R Seymour, K Williams, C Rockett, K Vogler, S Bunce, A White…
- Book ID
- 120732186
- Publisher
- BioMed Central
- Year
- 2012
- Tongue
- English
- Weight
- 80 KB
- Volume
- 1
- Category
- Article
- ISSN
- 2046-2530
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📜 SIMILAR VOLUMES
Alström syndrome is an autosomal recessive disorder (MIM No. \*203800) characterized by retinal degeneration, obesity, deafness, noninsulin-dependent diabetes mellitus, and nephropathy. We report two sibs with Alström syndrome and hepatic dysfunction. The first sib developed elevations in liver enzy
## Abstract The increased frequency of rare autosomal recessive conditions in genetically isolated populations is a well‐established phenomenon. This genetic isolation is invoked as an explanation when one particular mutation is the sole or most frequent mutation observed in a given population and