## 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
β¦ LIBER β¦
Analysis of the PROP1 gene in a large cohort of patients with idiopathic hypogonadotropic hypogonadism
β Scribed by John K. Park; Metin Ozata; Lynn P. Chorich; Lili Cheng; David P. Bick; Richard J. Sherins; I. C. Ozdemir; Erol Bolu; Joy D. Cogan; John A. Phillips III; Lawrence C. Layman
- Book ID
- 108702859
- Publisher
- John Wiley and Sons
- Year
- 2004
- Tongue
- English
- Weight
- 168 KB
- Volume
- 60
- Category
- Article
- ISSN
- 0300-0664
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
Novel mutation of theDAX1 gene in a pati
β
Hamaguchi, Kazuyuki; Arikawa, Masaya; Yasunaga, Seikoh; Kakuma, Tetsuya; Fukagaw
π
Article
π
1998
π
John Wiley and Sons
π
English
β 33 KB
π 2 views
Characterization of the human nasal embr
β
Kiyonori Miura; JamesS. Acierno; StephanieB. Seminara
π
Article
π
2004
π
Nature Publishing Group
π
English
β 222 KB
New frameshift mutation in the DAX-1 gen
β
Alessandra Meloni; Antonella Meloni; Antonio Cao; Maria Cristina Rosatelli
π
Article
π
1996
π
John Wiley and Sons
π
English
β 149 KB
π 2 views
Clinical assessment and molecular analys
β
Beatriz R. Versiani; Ericka Trarbach; Marcel Koenigkam-Santos; Antonio Carlos Do
π
Article
π
2007
π
John Wiley and Sons
π
English
β 190 KB
Screening of autosomal gene deletions in
β
Ericka Barbosa Trarbach; Milena Gurgel Teles; Elaine Maria Frade Costa; Ana Paul
π
Article
π
2010
π
John Wiley and Sons
π
English
β 270 KB
Analysis of the DYSF mutational spectrum
β
Martin Krahn; Christophe BΓ©roud; VΓ©ronique Labelle; Karine Nguyen; RafaΓ«lle Bern
π
Article
π
2008
π
John Wiley and Sons
π
English
β 314 KB
π 1 views
## Dysferlinopathies belong to the heterogeneous group of autosomal recessive muscular dystrophies. Mutations in the gene encoding dysferlin (DYSF) lead to distinct phenotypes, mainly Limb Girdle Muscular Dystrophy type 2B (LGMD2B) and Miyoshi myopathy (MM). Here, we analysed the mutational data fr