Mutations in NR0B1 (DAX1) and NR5A1 (SF1
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James K. Phelan; Edward R.B. Mccabe
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Article
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2001
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John Wiley and Sons
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English
⚖ 364 KB
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 Xp2