Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism

J.A. Poulter, M. Al-Araimi, I. Conte, M.M. van Genderen, E. Sheridan, I.M. Carr, D.A. Parry, M. Shires, S. Carrella, J. Bradbury, K. Khan, P. Lakeman, P.I. Sergouniotis, A.R. Webster, A.T. Moore, B. Pal, M.D. Mohamed, A. Venkataramana, V. Ramprasad, R. ShettyM. Saktivel, G. Kumaramanickavel, A. Tan, D.A. Mackey, A.W. Hewitt, S. Banfi, M. Ali, C.F. Inglehearn, C. Toomes

Research output: Contribution to journalArticleAcademicpeer-review

Original languageUndefined/Unknown
Pages (from-to)1143-1150
JournalAmerican journal of human genetics
Volume93
Issue number6
DOIs
Publication statusPublished - 2013

Cite this

Poulter, J. A., Al-Araimi, M., Conte, I., van Genderen, M. M., Sheridan, E., Carr, I. M., Parry, D. A., Shires, M., Carrella, S., Bradbury, J., Khan, K., Lakeman, P., Sergouniotis, P. I., Webster, A. R., Moore, A. T., Pal, B., Mohamed, M. D., Venkataramana, A., Ramprasad, V., ... Toomes, C. (2013). Recessive Mutations in SLC38A8 Cause Foveal Hypoplasia and Optic Nerve Misrouting without Albinism. American journal of human genetics, 93(6), 1143-1150. https://doi.org/10.1016/j.ajhg.2013.11.002