Phospholipase-associated neurodegeneration/infantile neuroaxonal dystrophy is an extremely rare autosomal recessive disorder caused due to biallelic loss-of-function variants in PLA2G6. Patients ...

Autosomal-recessive cerebellar hypoplasia and ataxia constitute a group of heterogeneous brain disorders caused by disruption of several fundamental cellular processes. Here, we identified 10 families ...

Constitutional biallelic mutations in MSH6 and other MMR genes should be considered in any child presenting with malignancy and abnormal skin pigmentation, even in the absence of a strong family ...

Therapeutic candidate rAAV8-EF1α-hSLC4A11 introduces normal copies of human SLC4A11 gene into the diseased corneal endothelial cells to compensate for loss of function pathologic biallelic SLC4A11 ...