Associated Papers
The Genetic Perspective of Familial Glucocorticoid Deficiency: In Silico Analysis of Two Novel Variants.
Heshmatzad K et al.
International Journal of Endocrinology, 2020
16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy.
Reinthaler EM et al.
Human Molecular Genetics, 2014
ACTH resistance: genes and mechanisms.
Meimaridou E et al.
Endocrine Development, 2013
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V et al.
European Journal of Endocrinology, 2011
Phenotypic characteristics of familial glucocorticoid deficiency (FGD) type 1 and 2.
Chung TT et al.
Clinical Endocrinology, 2010
Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.
Chan LF et al.
Hormone Research, 2008
Adrenocorticotropin resistance syndromes.
Cooray SN et al.
Endocrine Development, 2008
Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
Metherell LA et al.
Endocrine Research, 2004
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