Genetic & Genomic MedicineGenome MedicinePeer-reviewed
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Zoéline Mars, Andrea Zanetti, Karolina Kamińska…·Isabelle Perrault
The paper identifies biallelic DDX41 variants in LCA/EOSRD patients and shows they disrupt retinal homeostasis through loss-of-function mechanisms in mouse models.
1 citation