46, XX SEX Reversal with Dysgenesis of Kidneys, Adrenals, and Lungs (SERKAL)

Author:

Seyedmirzaei Homa,Hanaei Sara

Publisher

Springer International Publishing

Reference5 articles.

1. Heikkila M, Prunskaite R, Naillat F, Itaranta P, Vuoristo J, Leppaluoto J 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. Endocrinology 146(9):4016–4023

2. Mandel H, Shemer R, Borochowitz ZU, Okopnik M, Knopf C, Indelman M et al (2008) SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4. Am J Hum Genet 82(1):39–47

3. McKusick VA (2016) 46,XX sex reversal with dysgenesis of kidneys, adrenals, and lungs; SERKAL. OMIM. https://www.omim.org/entry/611812

4. NIH GaRDICo (2019) SERKAL syndrome. https://rarediseases.info.nih.gov/diseases/10302/serkal-syndrome

5. OrphaNet (2008) SERKAL syndrome. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139466

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