Müllerian aplasia and hyperandrogenism
Müllerian aplasia and hyperandrogenism is an autosomal dominant disorder caused by mutations of the WNT4 gene.
Biason-Lauber A et. al. (2004) A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman.[^]
Biason-Lauber A et. al. (2007) WNT4 deficiency--a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome: a case report.[^]
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.[^]