✦ LIBER ✦

X-linked adrenal hypoplasia congenita: a novelDAX1missense mutation and challenges for clinical diagnosis in Africa

✍ Scribed by Aimé Lumaka; Gerrye Mubungu; Celestin Nsibu; Bruno-Paul Tady; Tshilobo Lukusa; Koenraad Devriendt

Publisher: Springer
Year: 2011
Tongue: English
Weight: 130 KB
Volume: 171
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-011-1523-5

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutation of theDAX1 gene in a pati

Novel mutation of theDAX1 gene in a patient with X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism

✍ 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

X-linked adrenal hypoplasia in a large G

X-linked adrenal hypoplasia in a large Greenlandic family. Detection of a missense mutation (N440I) in the DAX-1 gene; implication for genetic counselling and carrier diagnosis

✍ M. Schwartz; Susanne Blichfeldt; Jørn Müller 📂 Article 📅 1996 🏛 Springer 🌐 English ⚖ 61 KB

Inappropriate tall stature and renal ect

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

✍ Adriana Franzese; Nicola Brunetti-Pierri; Raffaella Spadaro; Tokuo Mukai; Giulia 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 2 views

Inappropriate tall stature and renal ect

Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene

✍ Adriana Franzese; Nicola Brunetti-Pierri; Raffaella Spadaro; Tokuo Mukai; Giulia 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views