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LXXLL motifs and AF-2 domain mediate SHP (NR0B2) homodimerization and DAX1 (NR0B1)–DAX1A heterodimerization

✍ Scribed by Anita K. Iyer; Yao-Hua Zhang; Edward R.B. McCabe


Book ID
116988032
Publisher
Elsevier Science
Year
2007
Tongue
English
Weight
245 KB
Volume
92
Category
Article
ISSN
1096-7192

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Mutations in NR0B1 (DAX1) and NR5A1 (SF1
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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