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Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism.
Poulter JA, Al-Araimi M, Conte I, van Genderen MM, Sheridan E, Carr IM, Parry DA, Shires M, Carrella S, Bradbury J, Khan K, Lakeman P, Sergouniotis PI, Webster AR, Moore AT, Pal B, Mohamed MD, Venkataramana A, Ramprasad V, Shetty R, Saktivel M, Kumaramanickavel G, Tan A, Mackey DA, Hewitt AW, Banfi S, Ali M, Inglehearn CF, Toomes C. Poulter JA, et al. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. doi: 10.1016/j.ajhg.2013.11.002. Epub 2013 Nov 27. Am J Hum Genet. 2013. PMID: 24290379 Free PMC article. Review.
A First-Case Report of Pycnodysostosis in an Omani Boy.
Al-Araimi M, Al-Hosni A, Maimani AA. Al-Araimi M, et al. J Pediatr Genet. 2020 Aug 4;11(1):42-46. doi: 10.1055/s-0040-1714364. eCollection 2022 Mar. J Pediatr Genet. 2020. PMID: 35186389 Free PMC article.
16 results