SERKAL syndrome is an autosomal recessive disorder caused by mutations of the WNT4 gene. It is characterized by female-to-male SEx Reversion, Kidneys, Adrenal and Lung dysgenesis.
Vainio S et al. (1999) Female development in mammals is regulated by Wnt-4 signalling.[^]
Mandel H et al. (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4.[^]
Heikkilä M et al. (2005) The partial female to male sex reversal in Wnt-4-deficient females involves induced expression of testosterone biosynthetic genes and testosterone production, and depends on androgen action.[^]
OMIM.ORG articleOmim 611812 [^]
Orphanet articleOrphanet ID 139466 [^]
Wikipedia articleWikipedia EN (Serkal_syndrome) [^]