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Two novelDAX1gene mutations in Chinese patients with X-linked adrenal hypoplasia congenita: Clinical, hormonal and genetic analysis

✍ Scribed by C. M. Wu,H. B. Zhang,Q. Zhou,L. Wan,J. Jin…


Book ID
124159161
Publisher
Springer-Verlag
Year
2011
Tongue
English
Weight
228 KB
Volume
34
Category
Article
ISSN
0391-4097

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Novel mutation of theDAX1 gene in a pati
✍ Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 33 KB 👁 2 views

## 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