Associated Papers
Novel pathogenic variants of SLC38A8 gene and literature review.
Ren X et al.
European Journal of Ophthalmology, 2024
38515398 (PubMed )
Supplement: sj-xlsx-1-ejo-10.1177_11206721241242155.xlsx › Supplementary_table_2
Genetic characterization of 1210 Japanese pedigrees with inherited retinal diseases by whole-exome sequencing.
Suga A et al.
Human Mutation, 2022
36284460 (PubMed )
Supplement: supplement_1.xlsx › S2-1
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC et al.
Investigative Ophthalmology & Visual Science, 2022
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort.
Moon D et al.
Genes, 2021
Homozygous single nucleotide duplication of SLC38A8 in autosomal recessive foveal hypoplasia: The first Japanese case report.
Hayashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2021
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Schiff ER et al.
International Journal of Molecular Sciences, 2021
33498813 (PubMed )
Supplement: ijms-22-01130-s001.zip › Table_S1_SLC38A8_Schiff_et_al.21122020.xlsx › Sheet1
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Kuht HJ et al.
Human Molecular Genetics, 2020
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