Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa (vol 99, pg 236, 2016)
Andrea Angius,Paolo Uva,Insa Buers,Manuela Oppo,Alessandro Puddu,Stefano Onano,Ivana Persico,Angela Loi,Loredana Marcia,Wolfgang Hohne,Gianmauro Cuccuru,Giorgio Fotia,Manila Deiana,Mara Marongiu,Hatice Tuba Atalay, Sibel Inan, Osama El Assy, Leo M. E. Smit,Ilyas Okur,Koray Boduroglu,Gulen Eda Utine,Esra Kilic,Giuseppe Zampino,Giangiorgio Crisponi,Laura Crisponi,Frank Rutsch The American Journal of Human Genetics（2018）
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