Journal article
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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Bibliographic Details
- Journal:
- Nature
- Volume:
- 372
- Issue:
- 6507
- Pages:
- 672-676
- Publication date:
- 1994-12-01
- DOI:
- EISSN:
-
1476-4687
- ISSN:
-
0028-0836
- Source identifiers:
-
44636
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:44636
- UUID:
-
uuid:dba2e940-6533-41d9-bf2d-e33444aed4b7
- Local pid:
- pubs:44636
- Deposit date:
- 2012-12-19
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- Copyright date:
- 1994
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