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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...
Autores principales: | Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bentham Science Publishers Ltd
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137007/ https://www.ncbi.nlm.nih.gov/pubmed/22043170 http://dx.doi.org/10.2174/138920211795677912 |
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