Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa
Am J Hum Genet
.
2018 Apr 5;102(4):713.
doi: 10.1016/j.ajhg.2018.03.020.
Authors
Andrea Angius
,
Paolo Uva
,
Insa Buers
,
Manuela Oppo
,
Alessandro Puddu
,
Stefano Onano
,
Ivana Persico
,
Angela Loi
,
Loredana Marcia
,
Wolfgang Höhne
,
Gianmauro Cuccuru
,
Giorgio Fotia
,
Manila Deiana
,
Mara Marongiu
,
Hatice Tuba Atalay
,
Sibel Inan
,
Osama El Assy
,
Leo M E Smit
,
Ilyas Okur
,
Koray Boduroglu
,
Gülen Eda Utine
,
Esra Kılıç
,
Giuseppe Zampino
,
Giangiorgio Crisponi
,
Laura Crisponi
,
Frank Rutsch
PMID:
29625027
PMCID:
PMC5985354
DOI:
10.1016/j.ajhg.2018.03.020
No abstract available
Publication types
Published Erratum