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Functional effects of DAX-1 mutations identified in patients with X-linked adrenal hypoplasia congenita

✍ Scribed by Jin-Ho Choi; Jung-Young Park; Gu-Hwan Kim; Hye Young Jin; Beom Hee Lee; Jae Hyun Kim; Choong Ho Shin; Sei Won Yang; Han-Wook Yoo


Book ID
113799308
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
412 KB
Volume
60
Category
Article
ISSN
1532-8600

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Novel mutation of theDAX1 gene in a pati
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## 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