Chan LF, Clark AJ, Metherell LA

Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.

Horm Res 69:75-82 (2008)
DOI:10.1159/000111810

Tsigos C

Isolated glucocorticoid deficiency and ACTH receptor mutations.

Arch Med Res 30:475-80 (1999)
DOI:10.1016/S0188-0128(99)00057-3

Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJ

The majority of adrenocorticotropin receptor (melanocortin 2 receptor) mutations found in familial glucocorticoid deficiency type 1 lead to defective trafficking  of the receptor to the cell surface.

J Clin Endocrinol Metab 93:4948-54 (2008)
DOI:10.1210/jc.2008-1744

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA

Familial glucocorticoid deficiency: New genes and mechanisms.

Mol Cell Endocrinol 371:195-200 (2013)
DOI:10.1016/j.mce.2012.12.010

Metherell LA, Chan LF, Clark AJ

The genetics of ACTH resistance syndromes.

Best Pract Res Clin Endocrinol Metab 20:547-60 (2006)
DOI:10.1016/j.beem.2006.09.002