Condition: Microphthalmia, Syndromic 5
rs104894464
in
OTX2
gene and
Microphthalmia, Syndromic 5
PMID 22577225
2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.
PMID 20396904
2010 A novel loss-of-function mutation in OTX2 in a patient with anophthalmia and isolated growth hormone deficiency.
PMID 15846561
2005 Heterozygous mutations of OTX2 cause severe ocular malformations.
PMID 24167467
2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.