NR0B1A: an alternatively spliced form of NR0B1
β Scribed by John Ho; Yao-Hua Zhang; Bing-Ling Huang; Edward R.B. McCabe
- Book ID
- 116987582
- Publisher
- Elsevier Science
- Year
- 2004
- Tongue
- English
- Weight
- 526 KB
- Volume
- 83
- Category
- Article
- ISSN
- 1096-7192
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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
X-linked adrenal hypoplasia congenita (AHC) is caused by mutations in the NR0B1 gene. This gene encodes an orphan member of the nuclear receptor superfamily, DAX1. Ongoing efforts in our laboratory have identified nine novel NR0B1 mutations in X-linked AHC patients (Y81X, 343delG, 457delT, 629delG,