Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2.
Metherell
Louise A
LA
Department of Endocrinology, Barts & the London, London, UK.
Cooray
Sadani
S
Huebner
Angela
A
Ruschendorf
Franz
F
Naville
Danielle
D
Begeot
Martine
M
Clark
Adrian J L
AJ
D000225:Adenine; D002891:Chromosomes, Human, Pair 21; D005938:Glucocorticoids / Q000172:deficiency*; D006147:Guanine; D006720:Homozygote; D006801:Humans; D007438:Introns; D009154:Mutation; D021381:Protein Transport / Q000235:genetics*; D043202:Steroid Metabolism, Inborn Errors / Q000235:genetics*; D013941:Thymine
D005938:Glucocorticoids; D006147:Guanine; D000225:Adenine; D013941:Thymine