Mutations in a novel gene, encoding a single transmembrane domain protein are associated with familial glucocorticoid deficiency type 2

MeSH terms

• Adenine
• Chromosomes, Human, Pair 21
• Glucocorticoids / deficiency*
• Guanine
• Homozygote
• Humans
• Introns
• Mutation*
• Protein Transport / genetics*
• Steroid Metabolism, Inborn Errors / genetics*
• Thymine