Defective ciliogenesis in INPP5E-related Joubert syndrome

Hardee, I; Soldatos, A; Davids, M; Vilboux, T; Toro, C; David, KL; Ferreira, CR; Nehrebecky, M; Snow, J; Thurm, A; Heller, T; Macnamara, EF; Gunay-Aygun, M; Zein, WM; Gahl, WA; Malicdan, MCV

Soldatos, A; Malicdan, MCV (reprint author), NHGRI, NIH Undiagnosed Dis Program, Common Fund, NIH, Bethesda, MD 20892 USA.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017; 173 (12): 3231

Abstract

Joubert syndrome is a neurodevelopmental disorder, characterized by malformation of the mid and hindbrain leading to the pathognomonic molar tooth app......

Full Text Link