A compound heterozygous combination of SLC34A2 variants in pulmonary alveolar microlithiasis: A case report and literature review
A case of a male patient in his mid-50s with a 10-year history of exertional dyspnea and cough unresponsive to conventional therapy and a previously unreported compound heterozygous combination of SLC34A2 variants is reported, thereby expanding the catalogue of reported PAM-associated genetic combinations.