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
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC et al.
Investigative Ophthalmology & Visual Science, 2022
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
Clinical and genetic variability in children with partial albinism.
Campbell P et al.
Scientific Reports, 2019
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