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.
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Vainio S et al. (1999) Female development in mammals is regulated by Wnt-4 signalling. |
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Mandel H et al. (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. |
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OMIM.ORG article Omim 611812 |
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Orphanet article Orphanet ID 139466 |
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Wikipedia article Wikipedia EN (Serkal_syndrome) |