Broadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD

Sangermano, R; Deitch, I; Peter, VG; Ba-Abbad, R; Place, EM; Zampaglione, E; Wagner, NE; Fulton, AB; Coutinho-Santos, L; Rosin, B; Dunet, V; AlTalbishi, A; Banin, E; Sousa, AB; Neves, M; Larson, A; Quinodoz, M; Michaelides, M; Ben-Yosef, T; Pierce, EA; Rivolta, C; Webster, AR; Arno, G; Sharon, D; Huckfeldt, RM; Bujakowska, KM

Huckfeldt, RM; Bujakowska, KM (corresponding author), Harvard Med Sch, Dept Ophthalmol, Massachusetts Eye & Ear Infirm, Ocular Genom Inst, Boston, MA 02115 USA.

NPJ GENOMIC MEDICINE, 2021; 6 (1):

Abstract

Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort se......

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