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Mutations in the DAX-1 gene give rise to both X-linked adrenal hypoplasia congenita and hypogonadotropic hypogonadism.

Abstract:

Adrenal hypoplasia congenita (AHC) is an X-linked disorder characterized by primary adrenal insufficiency. Hypogonadotropic hypogonadism (HHG) is frequently associated with this disorder but is thought not to be caused by the low adrenal androgen levels due to adrenal hypoplasia. It is uncertain whether there are two distinct yet physically linked genes responsible for AHC and HHG or a single gene responsible for both diseases. AHC can occur as a part of a contiguous deletion syndrome togethe...

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Publication status:
Published

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Publisher copy:
10.1038/372672a0

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Journal:
Nature
Volume:
372
Issue:
6507
Pages:
672-676
Publication date:
1994-12-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
URN:
uuid:dba2e940-6533-41d9-bf2d-e33444aed4b7
Source identifiers:
44636
Local pid:
pubs:44636

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