Associated Papers
Novel pathogenic variants of SLC38A8 gene and literature review.
Ren X et al.
European Journal of Ophthalmology, 2024
Prospective Study of the Phenotypic and Mutational Spectrum of Ocular Albinism and Oculocutaneous Albinism.
Chan HW et al.
Genes, 2021
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Schiff ER et al.
International Journal of Molecular Sciences, 2021
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom.
Jackson D et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
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