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Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in...

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d19b7b8f5fac458ebb4c91336f791b75

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

About this item

Full title

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

Publisher

Switzerland: MDPI AG

Journal title

Biomedicines, 2023-01, Vol.11 (2), p.242

Language

English

Formats

Publication information

Publisher

Switzerland: MDPI AG

More information

Scope and Contents

Contents

Disorders/differences of sex development (DSDs) are a group of rare and phenotypically variable diseases. The underlying genetic causes of most cases of 46XY DSDs remains unknown. Despite the advent of genetic testing, current investigations of the causes of DSDs allow genetic-mechanism identification in about 20-35% of cases. This study aimed prim...

Alternative Titles

Full title

Whole-Exome Sequencing Identified Rare Genetic Variants Associated with Undervirilized Genitalia in Taiwanese Pediatric Patients

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_d19b7b8f5fac458ebb4c91336f791b75

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d19b7b8f5fac458ebb4c91336f791b75

Other Identifiers

ISSN

2227-9059

E-ISSN

2227-9059

DOI

10.3390/biomedicines11020242

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