Variant: rs773157352 

    present in Gene: OTX2
    present in Chromosome: 14
    Position on Chromosome: 56804235
    Alleles of this Variant: G/A;T

rs773157352 in OTX2 gene and Dysmorphic features PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

rs773157352 in OTX2 gene and Multiple congenital anomalies PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

rs773157352 in OTX2 gene and Muscle hypotonia PMID 22577225 2012 OTX2 mutations contribute to the otocephaly-dysgnathia complex.

PMID 18728160 2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.

PMID 24167467 2013 Otocephaly-Dysgnathia Complex: Description of Four Cases and Confirmation of the Role of OTX2.