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.