Microphthalmia

[1]. Amit S Verma, et al. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007 Nov 26;2:47. [Content Brief]

[2]. Andreas Gal, et al. Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease. Am J Hum Genet. 2011 Mar 11;88(3):382-90. [Content Brief]

[3]. Anne M Slavotinek, et al. Eye development genes and known syndromes. Mol Genet Metab. 2011 Dec;104(4):448-56. [Content Brief]

[4]. Christopher M Chou, et al. Biochemical Basis for Dominant Inheritance, Variable Penetrance, and Maternal Effects in RBP4 Congenital Eye Disease. Cell. 2015 Apr 23;161(3):634-646. [Content Brief]

[5]. E Ferda Percin, et al. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401. [Content Brief]

[6]. Jillian Casey, et al. First implication of STRA6 mutations in isolated anophthalmia, microphthalmia, and coloboma: a new dimension to the STRA6 phenotype. Hum Mutat. 2011 Dec;32(12):1417-26. [Content Brief]

[7]. Lejin Wang, et al. ABCB6 mutations cause ocular coloboma. Am J Hum Genet. 2012 Jan 13;90(1):40-8. [Content Brief]

[8]. Lisa A Schimmenti, et al. Novel mutation in sonic hedgehog in non-syndromic colobomatous microphthalmia. Am J Med Genet A. 2003 Jan 30;116A(3):215-21. [Content Brief]

[9]. Lucas Fares-Taie, et al. ALDH1A3 mutations cause recessive anophthalmia and microphthalmia. Am J Hum Genet. 2013 Feb 7;92(2):265-70. [Content Brief]

[10]. Mika Asai-Coakwell, et al. Incomplete penetrance and phenotypic variability characterize Gdf6-attributable oculo-skeletal phenotypes. Hum Mol Genet. 2009 Mar 15;18(6):1110-21. [Content Brief]

[11]. Ming Ye, et al. Mutation of the bone morphogenetic protein GDF3 causes ocular and skeletal anomalies. Hum Mol Genet. 2010 Jan 15;19(2):287-98. [Content Brief]

[12]. Nicolas Chassaing, et al. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Am J Med Genet A. 2016 Jul;170(7):1895-8. [Content Brief]

[13]. Tanya M Bardakjian, et al. The genetics of anophthalmia and microphthalmia. Curr Opin Ophthalmol. 2011 Sep;22(5):309-13. [Content Brief]

[14]. Udy Bar-Yosef, et al. CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds. Hum Genet. 2004 Sep;115(4):302-9. [Content Brief]