Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Nex...
Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing
About this item
Full title
Author / Creator
Publisher
Switzerland: MDPI AG
Journal title
Language
English
Formats
Publication information
Publisher
Switzerland: MDPI AG
Subjects
More information
Scope and Contents
Contents
Mutations in the
gene cause
deficiency and result in 46, XY Disorders of Sex Development (46, XY DSD). The diagnosis of 46, XY DSD is very challenging and not rarely is confirmed only at older ages, when an affected XY female presents with primary amenorrhea or develops progressive virilization. The patient described in this paper represents...
Alternative Titles
Full title
Detection of 46, XY Disorder of Sex Development (DSD) Based on Plasma Cell-Free DNA and Targeted Next-Generation Sequencing
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8700836
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8700836
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes12121890
