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  1. No Access

    Article

    Alström syndrome: an ultra-rare monogenic disorder as a model for insulin resistance, type 2 diabetes mellitus and obesity

    Alström syndrome (ALMS) is a monogenic ultra-rare disorder with a prevalence of one per million inhabitants caused by pathogenic variants of ALMS1 gene. ALMS1 is located on chromosome 2p13, spans 23 exons and enc...

    Francesca Dassie, Francesca Favaretto, Silvia Bettini, Matteo Parolin… in Endocrine (2021)

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    Article

    Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome

    Wolfram Syndrome is a very rare genetic disease causing diabetes mellitus, blindness, deafness, diabetes insipidus, and progressive brainstem degeneration. Neurologic symptoms of affected patients include atax...

    Felix Reschke, Julia Rohayem, Pietro Maffei, Francesca Dassie, Anke Schwandt… in Endocrine (2021)