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- W2139013669 abstract "Adrenal hypoplasia congenita (AHC) causes primary adrenal insufficiency due to the failure of development of the adrenal cortex. Clinical and pedigree data indicate that the condition is genetically heterogeneous. The predominant adrenal hypoplasia congenita locus, however, is the NR0B1 gene, at Xp21, encoding the protein DAX1. In this article, we present a compendium of published NR0B1 mutations and polymorphisms, and discuss them in the contexts of known biology and clinical applicability. The recent descriptions of patients with primary adrenal insufficiency due to mutations of NR5A1, which encodes SF1, are also discussed." @default.
- W2139013669 created "2016-06-24" @default.
- W2139013669 creator A5017020663 @default.
- W2139013669 creator A5071150922 @default.
- W2139013669 date "2001-01-01" @default.
- W2139013669 modified "2023-10-10" @default.
- W2139013669 title "Mutations inNR0B1 (DAX1) andNR5A1 (SF1) responsible for adrenal hypoplasia congenita" @default.
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- W2139013669 doi "https://doi.org/10.1002/humu.1225" @default.
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