Associated Papers
Heterogeneity of Primary Ciliary Dyskinesia Gene Variants: A Genetic Database Analysis in Russia.
Kondratyeva EI et al.
International Journal of Molecular Sciences, 2025
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
Molecular Diagnosis and Identification of Novel Pathogenic Variants in a Large Cohort of Italian Patients Affected by Polycystic Kidney Diseases.
Nigro E et al.
Genes, 2023
37372416 (PubMed )
Supplement: genes-14-01236-s001.zip › Supplementary_Tables_S2-S5.pdf
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
Expanding the genetic landscape of oral-facial-digital syndrome with two novel genes.
Strong A et al.
American Journal of Medical Genetics. Part A, 2021
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