Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.

Bielas, Sl; Silhavy, Jl; Brancati, F; Kisseleva, Mv; AL GAZALI, L; Sztriha, L; Bayoumi, Ra; Zaki, Ms; ABDEL ALEEM, A; Rosti, Ro; Kayserili, H; Swistun, D; Scott, Lc; Bertini, E; Boltshauser, E; Fazzi, Elisa Maria; Travaglini, L; Field, Sj; Gayral, S; Jacoby, M; Schurmans, S; Dallapiccola, B; Majerus, Pw; Valente, Em; Gleeson, Jg