Condition: MICROPHTHALMIA, ISOLATED 2


rs121912545 in VSX2 gene and MICROPHTHALMIA, ISOLATED 2 PMID 15257456 2004 CHX10 mutations cause non-syndromic microphthalmia/ anophthalmia in Arab and Jewish kindreds.

PMID 21976963 2011 VSX2 mutations in autosomal recessive microphthalmia.