Stokman, LaraNossent, Esther J.Grunberg, KatrienMeijboom, LilianYakicier, Mustafa C.Voorhoeve, ElsHouweling, Arjan C.2023-02-212023-02-212016-01-0110.1002/ccr3.532https://hdl.handle.net/11443/1673http://dx.doi.org/10.1002/ccr3.532Key Clinical Message With around 500 cases published worldwide, pulmonary alveolar microlithiasis is a rare disorder with an autosomal recessive pattern of inheritance. We show for the first time that homozygous deletions encompassing the entire SCL34A2 can be associated with this rare genetic pulmonary disease.Homozygous whole gene deletionpulmonary alveolar microlithiasisSLC34A2SNP arrayArticleWOS:000374011700026