NR5A1 gene variants repress the ovarian-specific WNT signaling pathway in 46,XX disorders of sex development patients.

Authors:
Knarston IM; Robevska G; van den Bergen JA; Eggers S; Croft B and 7 more

Journal:
Hum Mutat

Publication Year: 2018

DOI:
10.1002/humu.23672

PMCID:
PMC6492147

PMID:
30350900

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Journal Information

Full Title: Hum Mutat

Abbreviation: Hum Mutat

Country: Unknown

Publisher: Unknown

Language: N/A

Publication Details

Subject Category: Genetics, Medical

Available in Europe PMC: Yes

Available in PMC: Yes

PDF Available: No

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Evidence found in paper:

"this included six genes that have been implicated in 46xx (ovo)testicular dsd ( fgf9 rspo1 sox3 sox9 sox10 and wnt4 ) nr5a1 variant numbering is based on genbank reference dna sequence nm_004959 4 with the a of the atg initiation codon designated +1 nr5a1-predicted protein annotations are based on np_004950."

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Last Updated: Aug 05, 2025