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Article

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9

18 Oct 2013

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 24140641
DOI: 10.1016/j.ejmg.2013.10.001

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A rare case of 46, XX SRY-negative male with a ∼74-kb duplication in a region upstream of SOX9PMID 24140641Read ↗

[Exploration of the pathogenesis for a SRY-negative male with 46,XX disorder of sex development].Semantic proximity Read ↗

Refining the regulatory region upstream of <i>SOX9</i> associated with 46,XX testicular disorders of Sex Development (DSD)Semantic proximity Read ↗

A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb.Semantic proximity Read ↗

Mutations in SRY and SOX9: testis-determining genes.Semantic proximity Read ↗

Copy number variation of two separate regulatory regions upstream of <i>SOX9</i> causes isolated 46,XY or 46,XX disorder of sex developmentSemantic proximity Read ↗

Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex DevelopmentSemantic proximity Read ↗

A SOX9 duplication and familial 46,XX developmental testicular disorder.Semantic proximity Read ↗

Phenotypes Linked to Duplication Upstream of SOX9 : New Insights Into Presentation and DiagnosisSemantic proximity Read ↗

The smallest dislocated microduplication of Xq27.1 harboring SOX3 gene associated with XX male phenotype.Semantic proximity Read ↗

Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9Semantic proximity Read ↗

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 literatureSemantic proximity Read ↗

Identification of an SRY-Negative 46,XX Infertility Male with a Heterozygous Deletion Downstream of SOX3 GeneSemantic proximity Read ↗

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