Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia co...
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
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Full title
Author / Creator
Publisher
Germany: De Gruyter
Journal title
Language
English
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Publication information
Publisher
Germany: De Gruyter
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Scope and Contents
Contents
X-linked adrenal hypoplasia congenita (AHC) is caused by
(DAX1) gene mutations. Affected male children suffer from adrenal insufficiency, leading to a salt-wasting crisis in early infancy and hypogonadotropic hypogonadism in adulthood.
To characterize clinically and at the molecular level a cohort of Spanish patients with AHC.
Nine boys (f...
Alternative Titles
Full title
Clinical and molecular characterization of five Spanish kindreds with X-linked adrenal hypoplasia congenita: atypical findings and a novel mutation in NR0B1
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Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_1711542928
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1711542928
Other Identifiers
ISSN
0334-018X
E-ISSN
2191-0251
DOI
10.1515/jpem-2014-0472
