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
Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA et al.
American Journal of Human Genetics, 2013
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