Identification of a Homozygous Variant in the CYP21A2 Gene by Next-Generation Sequencing Analysis of...
Identification of a Homozygous Variant in the CYP21A2 Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA
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Publisher
Switzerland: MDPI AG
Journal title
Language
English
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Publisher
Switzerland: MDPI AG
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Scope and Contents
Contents
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by mutations in the
gene associated with 21-hydroxylase deficiency and increased levels of adrenal androgens. Affected females are at risk of ambiguous genitalia, while affected males show sexual precocity. Here, we present a case of a newborn female patient, characte...
Alternative Titles
Full title
Identification of a Homozygous Variant in the CYP21A2 Gene by Next-Generation Sequencing Analysis of Circulating Cell-Free Fetal DNA
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11941760
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_11941760
Other Identifiers
ISSN
2073-4425
E-ISSN
2073-4425
DOI
10.3390/genes16030311
