Clinical and Functional Effects of Mutations in theDAX-1Gene in Patients with Adrenal Hypoplasia Congenita1
نویسندگان
چکیده
منابع مشابه
Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita.
Adrenal hypoplasia congenita (AHC) is an X-linked disorder caused by mutations in a gene referred to as DAX-1. AHC is characterized by adrenal insufficiency and failure to undergo puberty because of hypogonadotropic hypogonadism. The DAX-1 protein is structurally related to orphan nuclear receptors, although it lacks the characteristic zinc finger DNA-binding domain that is highly conserved in ...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 1999
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jcem.84.2.5468