A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis
About this item
Full title
Author / Creator
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
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More information
Scope and Contents
Contents
Ovarian development and maintenance are poorly understood; however, diseases that affect these processes can offer insights into the underlying mechanisms. XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder that is characterized by underdeveloped, dysfunctional ovaries, with subsequent lack of spontaneous pubertal de...
Alternative Titles
Full title
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis
Authors, Artists and Contributors
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Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4639971
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4639971
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI83553
