Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes

Jennifer Adeghate, Samantha R. Goldburg, Sherry Bass, Joshua Schwimmer, Talia R. Kaden

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DOI: 10.1159/000545390
Published: 2025-03-26
Container: Case Reports in Ophthalmology
Publisher: S. Karger AG
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1159/000545390,
  title = {Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes},
  author = {Jennifer Adeghate and Samantha R. Goldburg and Sherry Bass and Joshua Schwimmer and Talia R. Kaden},
  year = {2025},
  journal = {Case Reports in Ophthalmology},
  doi = {10.1159/000545390},
  url = {https://doi.org/10.1159/000545390}
}

RIS

TY  - JOUR
TI  - Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes
AU  - Jennifer Adeghate
AU  - Samantha R. Goldburg
AU  - Sherry Bass
AU  - Joshua Schwimmer
AU  - Talia R. Kaden
PY  - 2025
JO  - Case Reports in Ophthalmology
DO  - 10.1159/000545390
UR  - https://doi.org/10.1159/000545390
ER  -

APA

Adeghate, J., Goldburg, S. R., Bass, S., Schwimmer, J., & Kaden, T. R. (2025). Novel Pathogenic Variants in IFT140 and IFT172 Genes in Three Patients with Similar Retinal Dystrophy Phenotypes. Case Reports in Ophthalmology. https://doi.org/10.1159/000545390

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crossref · retrieved 2026-11-10T10:50:42.753Z