Article

Novel pathogenic variants of SLC38A8 gene and literature review

2023-03-16

Abstract excerpt

<h4>Purpose: </h4> This study aimed to analyze the clinical and genetic characteristics of 6 Chinese Han patients with foveal hypoplasia (FH) caused by the variants of solute carrier family 38 member 8 ( SLC38A8 ) gene, and to describe the genotype and phenotype of SLC38A8 gene variants from previous literature. <h4>Methods: </h4> All subjects underwent comprehensive ophthalmic examinations including slit lamp mi...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 06de0192-d08f-5ade-ae9d-1c59eb6d75e3
DOI: 10.21203/rs.3.rs-2681778/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel pathogenic variants of SLC38A8 gene and literature reviewDOI 10.21203/rs.3.rs-2681778/v1Read

Novel pathogenic variants of SLC38A8 gene and literature review.Semantic proximity Read

Expanding the mutational and phenotypical spectrum of FHONDA syndrome.Semantic proximity Read

Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia.Semantic proximity Read

Expanding the mutational spectrum of FHONDA syndrome.Semantic proximity Read

Isolated foveal hypoplasia with secondary nystagmus and low vision is associated with a homozygous SLC38A8 mutation.Semantic proximity Read

The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.Semantic proximity Read

A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis.Semantic proximity Read

SLC38A8 mutations result in arrested retinal development with loss of cone photoreceptor specialization.Semantic proximity Read

Identification of autosomal recessive novel genes and retinal phenotypes in members of the solute carrier (SLC) superfamily.Semantic proximity Read

Genotypic and Phenotypic Spectrum of Foveal HypoplasiaSemantic proximity Read

Mutational investigation of 17 causative genes in a cohort of 113 families with nonsyndromic early-onset high myopia in northwestern China.Semantic proximity Read

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.Semantic proximity Read