Recurrent KCNN4 p.Ser314Pro variant in a child with Gardos channelopathy: a 6-year follow-up
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Gardos channelopathy is a rare dehydrated hereditary stomatocytosis caused by gain-of-function KCNN4 mutations. We report a pediatric case due to a recurrent p.Ser314Pro variant, representing the first description outside the Italian population. Over a compreh... ...
