Condition: PITUITARY HORMONE DEFICIENCY, COMBINED, 6
rs199761861
in
OTX2
gene and
PITUITARY HORMONE DEFICIENCY, COMBINED, 6
PMID 22715480
2012 A novel OTX2 mutation in a patient with combined pituitary hormone deficiency, pituitary malformation, and an underdeveloped left optic nerve.
PMID 18728160
2008 A novel dominant negative mutation of OTX2 associated with combined pituitary hormone deficiency.