Anterior segment dysgenesis
Definition:
References:
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[1]. A Vincent, et al. Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly. J Med Genet. 2001 May;38(5):324-6. [Content Brief]
[2]. Alex Choi, et al. Novel mutations in PXDN cause microphthalmia and anterior segment dysgenesis. Eur J Hum Genet. 2015 Mar;23(3):337-41. [Content Brief]
[3]. D Y Nishimura, et al. The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25. Nat Genet. 1998 Jun;19(2):140-7. [Content Brief]
[4]. E V Semina, et al. Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts. Hum Mol Genet. 2001 Feb 1;10(3):231-6. [Content Brief]
[5]. I M Hanson, et al. Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly. Nat Genet. 1994 Feb;6(2):168-73. [Content Brief]
[6]. Sek-Shir Cheong, et al. Mutations in CPAMD8 Cause a Unique Form of Autosomal-Recessive Anterior Segment Dysgenesis. Am J Hum Genet. 2016 Dec 1;99(6):1338-1352. [Content Brief]
[7]. W L Alward, et al. Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol. 1998 Jan;125(1):98-100. [Content Brief]
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