Associated Papers
Potential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
Pyatla G et al.
International Journal of Molecular Sciences, 2024
39337513 (PubMed )
Supplement: ijms-25-10028-s001.zip › Copy_of_Revised_Table_S3_CEP164_reported_phenotypes.xlsx › Sheet1
A novel pathogenic variant of CEP164 in an infant with Senior-Loken syndrome.
Liu L et al.
Pediatric Investigation, 2023
37324592 (PubMed )
Supplement: PED4-7-140-s001.pdf
Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA et al.
Clinical Genetics, 2023
36273371 (PubMed )
Supplement: CGE-103-330-s002.docx
Genetic Background and Clinicopathologic Features of Adult-onset Nephronophthisis.
Fujimaru T et al.
Kidney International Reports, 2021
34013113 (PubMed )
Supplement: mmc1.pdf
Clinical Characteristics, Differential Diagnosis and Genetic Analysis of Concentric Retinitis Pigmentosa.
Nakahara M et al.
Life (basel, Switzerland), 2021
Select a paper to view details