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Alstrom syndrome (OMIM 203800): a case report and literature review

BACKGROUND: Alstrom syndrome (AS) is a rare autosomal recessive disease characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss. Associated endocrinologic features include hyperinsulinemia, early-o...

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Hlavní autoři: Joy, Tisha, Cao, Henian, Black, Graeme, Malik, Rayaz, Charlton-Menys, Valentine, Hegele, Robert A, Durrington, Paul N
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2007
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2266715/
https://ncbi.nlm.nih.gov/pubmed/18154657
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1750-1172-2-49
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