Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Angius, Andrea, Uva, Paolo, Buers, Insa, Oppo, Manuela, Puddu, Alessandro, Onano, Stefano, Persico, Ivana, Loi, Angela, Marcia, Loredana, Höhne, Wolfgang, Cuccuru, Gianmauro, Fotia, Giorgio, Deiana, MVolume:
102
Language:
english
Journal:
The American Journal of Human Genetics
DOI:
10.1016/j.ajhg.2018.03.020
Date:
April, 2018
File:
PDF, 97 KB
english, 2018