In this Review, Schurman and Scheinman detail the clinical and genetic features of syndromes with a defined genetic basis that are characterized by the concomitant presence of abnormalities of the central nervous system and kidneys. The authors focus their attention on the oculocerebrorenal syndrome of Lowe and on ciliopathies—particularly Joubert syndrome and Bardet–Biedl syndrome.
- Scott J. Schurman
- Steven J. Scheinman
