## X-linked adrenal hypoplasia congenita (AHC) is characterized by primary adrenal insufficiency and is frequently associated with hypogonadotropic hypogonadism (HHG). Mutations of the DAX1 gene have been reported in patients with AHC and HHG. We found a novel DAX1 mutation in our patient. Sequenc
Late-onset adrenal hypoplasia congenita caused by a novel mutation of theDAX-1gene
β Scribed by Fan Yang; Keiichi Hanaki; Tomoe Kinoshita; Yuki Kawashima; Jun-ichi Nagaishi; Susumu Kanzaki
- Publisher
- Springer
- Year
- 2008
- Tongue
- English
- Weight
- 112 KB
- Volume
- 168
- Category
- Article
- ISSN
- 0340-6997
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We identified a DAX1 missense mutation, a substitution of arginine for leucine at codon 466 (Leu466Arg), in an infant with X-linked congenital adrenal hypoplasia (AHC). A heterozygous substitution, Leu466Arg, was also identified in his mother and sister. Since leucine at position 466 is well conserv
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