Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Müllerian aplasia and hyperandrogenism is an autosomal dominant disorder caused by mutations of the WNT4 gene.
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Biason-Lauber A et al. (2004) A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman. 
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Biason-Lauber A et al. (2007) WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.
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Philibert P et al. (2008) Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and müllerian duct abnormalities: a French collaborative study.
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Orphanet article Orphanet ID 247768
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OMIM.ORG article Omim 158330
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Wikipedia article Wikipedia EN (WNT4_deficiency)
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