Condition: ACTH Deficiency, Isolated
rs988133284
in
RPE65
gene and
ACTH Deficiency, Isolated
PMID 30576320
2018 Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis.
rs74315377
in
TBX19
gene and
ACTH Deficiency, Isolated
PMID 11290323
2001 A pituitary cell-restricted T box factor, Tpit, activates POMC transcription in cooperation with Pitx homeoproteins.