⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

September 4, 2024Ophthalmic GeneticsOpen Access

Expanding the genotypic and phenotypic spectra with a novel variant in the ciliopathy gene, CFAP410 , associated with selective cone degeneration

Grace A. Borchert Morag Shanks Jennifer Whitfield Penny Clouston Shabnam Raji Sian Sperring Jennifer A. Thompson Kanmin Xue Samantha R. De Silva Susan M. Downes Robert E. MacLaren Jasmina Cehajic‐Kapetanovic

View Full Paper

Ask AI

Bookmark

Share

Abstract

(Cilia and Flagella Associated Protein 410) encodes a protein that has an important role in the development and function of cilia. In ophthalmology, pathogenic variants in

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Borchert et al. (2024) studied this question.

synapsesocial.com/papers/68e5969ab6db643587531bbf https://doi.org/10.1080/13816810.2024.2369271

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Coding and non-coding variants in the ciliopathy gene CFAP410 cause early-onset non-syndromic retinal degeneration.2024
2CFAP300 Loss-of-Function Mutations with Primary Ciliary Dyskinesia: Evidence from Ex Vivo and ALI Cultures2025 · 3 citations
3Intrafamilial phenotypic variation in four Palestinian siblings with CFAP418-related ciliopathy: a familial case seriesCase Report · 2026
4Pathogenic variants in<i>CFAP46</i>,<i>CFAP54</i>,<i>CFAP74</i>, and<i>CFAP221</i>cause Primary Ciliary Dyskinesia with a defective C1d projection of the central apparatus2024 · 17 citations
5CFAP300 loss-of-function variant causes primary ciliary dyskinesia and male infertility via disrupting sperm flagellar assembly and acrosome formation2025 · 3 citations