Nature

Autosomal dominant congenital superior oblique palsy

Purpose We describe a mother and all her offspring with congenital superior oblique palsy (CSOP), and a father and all his sons with unilateral CSOP. We discuss the inheritance pattern in our ...
The New England Journal of Medicine

Tolvaptan in Later-Stage Autosomal Dominant Polycystic Kidney Disease

In a previous trial involving patients with early autosomal dominant polycystic kidney disease (ADPKD; estimated creatinine clearance, ≥60 ml per minute), the vasopressin V 2-receptor antagonist ...
Nature

Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants

Families underwent phenotyping for features of Noonan syndrome in children and their parents. Two multiplex families underwent linkage analysis. Exome, genome, or multigene panel sequencing was used ...
The New England Journal of Medicine

Blood Pressure in Early Autosomal Dominant Polycystic Kidney Disease

To the Editor: In the Halt Progression of Polycystic Kidney Disease (HALT-PKD) study, Schrier et al. (Dec. 11 issue) 1 randomly assigned patients with early-stage autosomal dominant polycystic kidney ...