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Author

M. Ibarra-Ramírez

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Open access Sep 2026

Early Molecular Testing for Presumptive Genetic Eye Diseases

The findings support ophthalmology-focused multigene panels as an effective first-line diagnostic strategy for patients with suspected genetic eye diseases and support future targeted deep phenotypic evaluation, prognosis, and eligibility for emerging gene-specific therapies.

M. Ibarra-Ramírez, Jibran Mohamed-Noriega, Joel Arenas-Estala et al. · 0 citations
Aug 2026

Intrafamilial Variability in 2 Siblings With TANGO2-Related Disorder.

Two sisters homozygous for the recurrent TANGO2 variant c.460G>A, identified in a family of Hispanic/Latino ancestry, who exhibited divergent clinical presentations highlight intrafamilial variability within the recognized TDD spectrum and underscore the importance of early recognition of neurologic and endocrine featu...

Diego Armando Nájera-Eguía, Estefanía Villarreal-Garza, L. E. Martínez-de-Villarreal et al. · 0 citations

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