Eight novel variants in the<i>SLC34A2</i>gene in pulmonary alveolar microlithiasis

Abstract

Our findings support a significant role for <i>SLC34A2</i> in PAM and expand the variant spectrum of the disease. Thus, <i>SLC34A2</i> variants were detected in all patients and eight novel allelic variants were discovered. An association between disease severity and the severity of the variants was found; however, this needs to be investigated in larger patient populations.