SERKAL syndrome
Definition:
References:
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[1]. Hannah Mandel, et al. SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet. 2008 Jan;82(1):39-47. [Content Brief]
[2]. Minna Heikkilä, et al. 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. Endocrinology. 2005 Sep;146(9):4016-23. [Content Brief]