Condition: Microphthalmia, Isolated, with Coloboma 3
rs121912543 in
VSX2 gene and
Microphthalmia, Isolated, with Coloboma 3
PMID 17919464 2008 Negative regulation of Vsx1 by its paralog Chx10/Vsx2 is conserved in the vertebrate retina.
PMID 27301076 2016 Regulation of WNT Signaling by VSX2 During Optic Vesicle Patterning in Human Induced Pluripotent Stem Cells.
PMID 10932181 2000 Human microphthalmia associated with mutations in the retinal homeobox gene CHX10.
PMID 24033328 2014 Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia.
PMID 15257456 2004 CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.