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STAG3 truncating variant as the cause of primary ovarian insufficiency

STAG3 truncating variant as the cause of primary ovarian insufficiency

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4795223

STAG3 truncating variant as the cause of primary ovarian insufficiency

About this item

Full title

STAG3 truncating variant as the cause of primary ovarian insufficiency

Publisher

England: Nature Publishing Group

Journal title

European journal of human genetics : EJHG, 2016-01, Vol.24 (1), p.135-138

Language

English

Formats

Publication information

Publisher

England: Nature Publishing Group

More information

Scope and Contents

Contents

Primary ovarian insufficiency (POI) is a distressing cause of infertility in young women. POI is heterogeneous with only a few causative genes having been discovered so far. Our objective was to determine the genetic cause of POI in a consanguineous Lebanese family with two affected sisters presenting with primary amenorrhoea and an absence of any...

Alternative Titles

Full title

STAG3 truncating variant as the cause of primary ovarian insufficiency

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4795223

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4795223

Other Identifiers

ISSN

1018-4813

E-ISSN

1476-5438

DOI

10.1038/ejhg.2015.107

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