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Rare case of Alstrom syndrome with empty sella and interfamilial presence of Bardet-Biedl phenotype
Alstrom syndrome is an extremely rare, autosomal recessive genetic disorder characterized by a group of signs and symptoms including infantile onset dilated cardiomyopathy, blindness, hearing impairment/loss, obesity, diabetes, hepatic and renal dysfunction. Since the first description of the syndro...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Carol Davila University Press
2009
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5051489/ https://www.ncbi.nlm.nih.gov/pubmed/20108498 |