Mutations in CSPP1 lead to classical Joubert syndrome.

Abstract

Joubert syndrome and related disorders (JSRDs) are genetically heterogeneous and characterized by a distinctive mid-hindbrain malformation. Causative mutations lead to primary cilia dysfunction, which often results in variable involvement of other organs such as the liver, retina, and kidney. We identified predicted null mutations in CSPP1 in six… (More)
DOI: 10.1016/j.ajhg.2013.11.015

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