Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT, Chan LF, Metherell LA, Clark AJ.
Clin Endocrinol (Oxf). 2010 May;72(5):589-94. doi: 10.1111/j.1365-2265.2009.03663.x. Epub 2009 Jun 24.
[Familial glucocorticoid deficiency].
Mazur A, Ostański M, Kalina M.
Pediatr Endocrinol Diabetes Metab. 2007;13(2):91-4.
Familial glucocorticoid deficiency type 2: a case report.
Akın L, Kurtoğlu S, Kendirici M, Akın MA.
J Clin Res Pediatr Endocrinol. 2010;2(3):122-5. doi: 10.4274/jcrpe.v2i3.122. Epub 2010 Aug 6.
Familial Glucocorticoid Deficiency Presenting with Tonic-Clonic Seizure: A Case Report.
Alghamdi AH.
Children (Basel). 2023 Feb 3;10(2):301. doi: 10.3390/children10020301.
Familial glucocorticoid deficiency: New genes and mechanisms.
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJ, Metherell LA.
Mol Cell Endocrinol. 2013 May 22;371(1-2):195-200. doi: 10.1016/j.mce.2012.12.010. Epub 2012 Dec 29.
Missense mutations in the melanocortin 2 receptor accessory protein that lead to late onset familial glucocorticoid deficiency type 2.
Hughes CR, Chung TT, Habeb AM, Kelestimur F, Clark AJ, Metherell LA.
J Clin Endocrinol Metab. 2010 Jul;95(7):3497-501. doi: 10.1210/jc.2009-2731. Epub 2010 Apr 28.
Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.
Metherell LA, Chapple JP, Cooray S, David A, Becker C, Rüschendorf F, Naville D, Begeot M, Khoo B, Nürnberg P, Huebner A, Cheetham ME, Clark AJ.
Nat Genet. 2005 Feb;37(2):166-70. doi: 10.1038/ng1501. Epub 2005 Jan 16.
Linkage of one gene for familial glucocorticoid deficiency type 2 (FGD2) to chromosome 8q and further evidence of heterogeneity.
Génin E, Huebner A, Jaillard C, Faure A, Halaby G, Saka N, Clark AJ, Durand P, Bégeot M, Naville D.
Hum Genet. 2002 Oct;111(4-5):428-34. doi: 10.1007/s00439-002-0806-3. Epub 2002 Aug 24.
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF, Clark AJ, Metherell LA.
Horm Res. 2008;69(2):75-82. doi: 10.1159/000111810. Epub 2007 Dec 5.
Familial glucocorticoid deficiency type 2 in two neonates.
Ramachandran P, Penhoat A, Naville D, Begeot M, Osama Abdel-Wareth L, Reza Sedaghatian M.
J Perinatol. 2003 Jan;23(1):62-6. doi: 10.1038/sj.jp.7210813.
