Article
Compound heterozygosity of a frameshift mutation in the coding region and a single base substitution in the promoter of the ACTH receptor gene in a family with isolated glucocorticoid deficiency.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2006
Tsiotra Panayoula C, Koukourava Athina, Kaltezioti Valeria, Geffner Mitchell E, Naville Danielle, Begeot Martine, Raptis Sotirios A, Tsigos Constantine
Abstract excerpt
Isolated glucocorticoid deficiency (IGD) is an autosomal recessive syndrome characterized by glucocorticoid insufficiency without mineralocorticoid deficiency. Mutations in the coding region of the ACTH receptor (MC2R) have been reported in several families with IGD. We amplified and sequenced th...
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