Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia

Biallelic pathogenic variants in solute carrier family 38 member 8, SLC38A8, cause a pan-ocular autosomal recessive condition known as foveal hypoplasia 2, FVH2, characterised by foveal hypoplasia, nystagmus and optic nerve chiasmal misrouting. Patients are often clinically diagnosed with ocular alb...

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Detalles Bibliográficos
Autores principales: Schiff, Elena R., Tailor, Vijay K., Chan, Hwei Wuen, Theodorou, Maria, Webster, Andrew R., Moosajee, Mariya
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866073/
https://www.ncbi.nlm.nih.gov/pubmed/33498813
http://dx.doi.org/10.3390/ijms22031130

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7866073/
https://www.ncbi.nlm.nih.gov/pubmed/33498813
http://dx.doi.org/10.3390/ijms22031130

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