rs1329285216 in
FFAR4;RBP4 gene and
Microphthalmos
PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
rs1554985722 in
PAX6 gene and
Microphthalmos
PMID 29178648 2017 Panel-based whole exome sequencing identifies novel mutations in microphthalmia and anophthalmia patients showing complex Mendelian inheritance patterns.
rs755799430 in
VSX2 gene and
Microphthalmos
PMID 26893459 2016 Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.