Associated Papers
Novel pathogenic variants of SLC38A8 gene and literature review.
Ren X et al.
European Journal of Ophthalmology, 2024
The co-occurrence of genetic variants in the TYR and OCA2 genes confers susceptibility to albinism.
Green DJ et al.
Nature Communications, 2024
39349469 (PubMed )
Supplement: 41467_2024_52763_MOESM4_ESM.xlsx › supp_data_1
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
38364701 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Expanding the mutational spectrum of FHONDA syndrome.
Shoji MK et al.
Ophthalmic Genetics, 2023
The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism.
Michaud V et al.
Nature Communications, 2022
35803923 (PubMed )
Supplement: 41467_2022_31392_MOESM4_ESM.xlsx › Supplementary-Table_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
Genotype-Phenotype of Isolated Foveal Hypoplasia in a Large Cohort: Minor Iris Changes as an Indicator of PAX6 Involvement.
Jiang Y et al.
Investigative Ophthalmology & Visual Science, 2021
34415986 (PubMed )
Supplement: iovs-62-10-23_s004.xlsx › Sheet1
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.
Schiff ER et al.
International Journal of Molecular Sciences, 2021
SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.
Kuht HJ et al.
Human Molecular Genetics, 2020
Molecular characterization of a series of 990 index patients with albinism.
Lasseaux E et al.
Pigment Cell & Melanoma Research, 2018
Structural modeling of a novel SLC38A8 mutation that causes foveal hypoplasia.
Toral MA et al.
Molecular Genetics & Genomic Medicine, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
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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