Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.

Poulter, James A

Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. [electronic resource] - American journal of human genetics Dec 2013 - 1143-50 p. digital

Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review

1537-6605

10.1016/j.ajhg.2013.11.002 doi


Albinism
Amino Acid Transport Systems, Neutral--genetics
Animals
Child
Consanguinity
DNA Mutational Analysis
Female
Fovea Centralis--abnormalities
Genes, Recessive
Homozygote
Humans
Male
Mutation
Optic Nerve--physiopathology
Pedigree
Phenotype
Syndrome