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Functional relationships between three novel homozygous mutations in the ACTH receptor gene and familial glucocorticoid deficiency

Homozygous MutationsDevelopmental BiologyMendelian DisorderGenetic DisorderGeneticsInherited Metabolic DiseaseGenetic EpidemiologyActh Receptor GeneReceptor BiologyDisease Gene IdentificationGlucocorticoidPublic HealthMedicineFamilial Glucocorticoid Deficiency