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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

✍ Scribed by Muscatelli, Françoise; Strom, Tim M.; Walker, Ann P.; Zanaria, Elena; Récan, Dominique; Meindl, Alfons; Bardoni, Barbara; Guioli, Silvana; Zehetner, Günther; Rabl, Wolfgang


Book ID
109790657
Publisher
Nature Publishing Group
Year
1994
Tongue
English
Weight
467 KB
Volume
372
Category
Article
ISSN
0028-0836

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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