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Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of k...

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of k...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3689e0aa91e7417bafd04f5ae92fb96c

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

About this item

Full title

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Publisher

Poland: De Gruyter Poland

Journal title

Balkan journal of medical genetics, 2019-08, Vol.22 (1), p.81-88

Language

English

Formats

Publication information

Publisher

Poland: De Gruyter Poland

More information

Scope and Contents

Contents

Disorders of sex development (DSD) are a group of rare conditions characterized by discrepancy between chromosomal sex, gonads and external genitalia. Congenital abnormalities of the kidney and urinary tract are often associated with DSD, mostly in multiple malformation syndromes. We describe the case of an 11-year-old Caucasian boy, with right kid...

Alternative Titles

Full title

Duplication of the SOX3 gene in an sry-negative 46,XX male with associated congenital anomalies of kidneys and the urinary tract: Case report and review of the literature

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_3689e0aa91e7417bafd04f5ae92fb96c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_3689e0aa91e7417bafd04f5ae92fb96c

Other Identifiers

ISSN

1311-0160

E-ISSN

1311-0160,2199-5761

DOI

10.2478/bjmg-2019-0006

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