Foveal hypoplasia
Definition:
References:
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[1]. A Vincent, et al. Variable expressivity of ocular associations of foveal hypoplasia in a family. Eye (Lond). 2009 Aug;23(8):1735-9. [Content Brief]
[2]. I Hanson, et al. Missense mutations in the most ancient residues of the PAX6 paired domain underlie a spectrum of human congenital eye malformations. Hum Mol Genet. 1999 Feb;8(2):165-72. [Content Brief]
[3]. James A Poulter, et al. Recessive mutations in SLC38A8 cause foveal hypoplasia and optic nerve misrouting without albinism. Am J Hum Genet. 2013 Dec 5;93(6):1143-50. [Content Brief]
[4]. N Azuma, et al. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet. 1996 Jun;13(2):141-2. [Content Brief]
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