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

Abstract Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inherited retinal degenerations (IRDs) has not been made. We validate this associati...

Disgrifiad llawn

Manylion Llyfryddiaeth

Prif Awduron:	Riccardo Sangermano, Iris Deitch, Virginie G. Peter, Rola Ba-Abbad, Emily M. Place, Erin Zampaglione, Naomi E. Wagner, Anne B. Fulton, Luisa Coutinho-Santos, Boris Rosin, Vincent Dunet, Ala’a AlTalbishi, Eyal Banin, Ana Berta Sousa, Mariana Neves, Anna Larson, Mathieu Quinodoz, Michel Michaelides, Tamar Ben-Yosef, Eric A. Pierce, Carlo Rivolta, Andrew R. Webster, Gavin Arno, Dror Sharon, Rachel M. Huckfeldt, Kinga M. Bujakowska
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	Nature Portfolio 2021-06-01
Cyfres:	npj Genomic Medicine
Mynediad Ar-lein:	https://doi.org/10.1038/s41525-021-00214-8
Tagiau:	Ychwanegu Tag Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!