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Alström Syndrome: Genetics and Clinical Overview

Alström syndrome is a rare autosomal recessive genetic disorder characterized by cone-rod dystrophy, hearing loss, childhood truncal obesity, insulin resistance and hyperinsulinemia, type 2 diabetes, hypertriglyceridemia, short stature in adulthood, cardiomyopathy, and progressive pulmonary, hepatic...

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Detalles Bibliográficos
Autores principales: Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Formato: Artigo
Lenguaje:Inglês
Publicado: Bentham Science Publishers Ltd 2011
Materias:
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3137007/
https://ncbi.nlm.nih.gov/pubmed/22043170
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2174/138920211795677912
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