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X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism: Report on new mutation of the DAX-1 gene in two siblings

✍ Scribed by Calvari, V.; Alpigiani, M. G.; Poggi, E.; Podesta, B.; Camerino, G.; Lorini, R.


Book ID
125337574
Publisher
Springer-Verlag
Year
2006
Tongue
English
Weight
186 KB
Volume
29
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 πŸ“‚ Article πŸ“… 1998 πŸ› John Wiley and Sons 🌐 English βš– 33 KB πŸ‘ 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