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A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogo...

A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogo...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1876817346

A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism

About this item

Full title

A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism

Publisher

Germany: De Gruyter

Journal title

Journal of Pediatric Endocrinology & Metabolism, 2017-03, Vol.30 (3), p.349-353

Language

English

Formats

Publication information

Publisher

Germany: De Gruyter

More information

Scope and Contents

Contents

Background The DAX-1 gene is associated with X-linked adrenal hypoplasia congenita (AHC). Our objective was to compare the DAX-1 gene sequence of two male siblings exhibiting different clinical manifestations of AHC. Methods Clinical features were analyzed and laboratory data were collected from both siblings. Genomic DNA was extracted from the per...

Alternative Titles

Full title

A novel DAX-1 mutation in two male siblings presenting with precocious puberty and late-onset hypogonadotropic hypogonadism

Authors, Artists and Contributors

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1876817346

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1876817346

Other Identifiers

ISSN

0334-018X

E-ISSN

2191-0251

DOI

10.1515/jpem-2016-0228

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