Litcius/Paper detail

Pathogenic Variants in CEP290 or IQCB1 Cause Earlier-Onset Retinopathy in Senior-Loken Syndrome Compared to Those in INVS, NPHP3, or NPHP4

Junwen Wang, Shiqiang Li, Yi Jiang, Yingwei Wang, Jiamin Ouyang, Zhen Yi, Wenmin Sun, Xiaoyun Jia, Xueshan Xiao, Panfeng Wang, Qingjiong Zhang

2023American Journal of Ophthalmology12 citationsDOI

Topics & Concepts

MedicineNephronophthisisInternal medicinePediatricsPhenotypeBiologyGeneticsGeneGenetic and Kidney Cyst DiseasesRenal and related cancersHedgehog Signaling Pathway Studies