Characterization of novel GCDH pathogenic variants causing glutaric aciduria type 1 in the southeast of Mexico
2019 · Molecular Genetics and Metabolism Reports · 10 citations
https://doi.org/10.1016/j.ymgmr.2019.100533
O
Oscar F. Chacón‐Camacho
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Oscar F. Chacón‐Camacho is an academic researcher from Institute of Ophthalmology. The author has contributed to research in topics: Retinal Development and Disorders & Retinal Diseases and Treatments & Ocular Disorders and Treatments. The author has an h-index of 14, co-authored 73 publications.
ORCID: 0000-0001-6274-6041Papers by this author
worksA New Ocular Phenotype Combining Juvenile Glaucoma and Doyne Honeycomb Retinal Dystrophy (Malattia Leventinese) due to a Novel <i>EFEMP1</i> Pathogenic Variant
2024 · American Journal of Medical Genetics Part A · 4 citations
https://doi.org/10.1002/ajmg.a.63869
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
2023 · International Ophthalmology · 3 citations
https://doi.org/10.1007/s10792-023-02774-3
Genotypic spectrum of ABCA4-associated retinal degenerations in 211 unrelated Mexican patients: identification of 22 novel disease-causing variants
2024 · Molecular Genetics and Genomics · 3 citations
https://doi.org/10.1007/s00438-024-02174-x
A novel <i>PRDM13</i> gene duplication causing congenital North Carolina macular dystrophy phenotype in a Mexican family.
2024 · PubMed · 1 citations
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