Poulter, James A <br/><br/>
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 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2013.11.002  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Albinism<br/>Amino Acid Transport Systems, Neutral--genetics<br/>Animals<br/>Child<br/>Consanguinity<br/>DNA Mutational Analysis<br/>Female<br/>Fovea Centralis--abnormalities<br/>Genes, Recessive<br/>Homozygote<br/>Humans<br/>Male<br/>Mutation<br/>Optic Nerve--physiopathology<br/>Pedigree<br/>Phenotype<br/>Syndrome