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Description
Autosomal-recessive intellectual disability with cerebellar atrophy syndrome caused by mutation of the manganese and zinc transporter gene SLC39A8
Type 2 APS is defined by the occurrence of Addison's disease with thyroid autoimmune disease and/or Type 1 diabetes mellitus
It is critical to cellular function
[DOI] [PubMed] [Google Scholar] 238.Pfluger PT, Herranz D, Velasco-Miguel S, Serrano M, Tschp MH
