Rare bi-allelic loss-of-function variants in the LRRK2 kinase cause interstitial lung disease
Tuğba Kalaycı, Kathryn A. Wikenheiser‐Brokamp, Sara Gomes…·Esther M. Sammler
This study identifies biallelic LRRK2 loss-of-function variants as a cause of interstitial lung disease, showing reduced LRRK2 protein and impaired lung function in affected individuals.