Concurrent inheritance of achromatopsia and MMAT syndrome in a pedigree: Genetic and clinical insights
Pathogenic variants in PDE6H and ADAMTS18 can cause a broad range of ophthalmic disorders. We suggest that the study of rare congenital genetic diseases in developing countries should be prioritized due to the differences in their environments and the issues care givers are confronted with when trying to face them.
Authors
- Hossein Jafari Khamirani (ORCID: https://orcid.org/0000-0001-7703-7387)
- Kaoru Tabei (ORCID: https://orcid.org/0000-0001-9923-6969)
- Maryam Aghasipour (ORCID: https://orcid.org/0009-0003-8774-3172)
- Seyed Alireza Dastgheib (ORCID: https://orcid.org/0000-0003-4781-301X)
- Sina Zoghi (ORCID: https://orcid.org/0000-0001-5966-5590)
- Mehrdad Afarid (ORCID: https://orcid.org/0000-0003-2348-9163)
- Mehdi Dianatpour (ORCID: https://orcid.org/0000-0003-1217-9477)
- Maryam Feili
- Afrooz Feili (ORCID: https://orcid.org/0000-0001-9601-6282)
Institutions
- Shiraz University of Medical Sciences (IR)
- University of Cincinnati (US)
Publication Details
- Journal
- European Journal of Medical Genetics
- Published
- 2025-09-13
- DOI
- https://doi.org/10.1016/j.ejmg.2025.105045
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00