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pro vyhledávání: '"Michele Rapp MS"'
Autor:
Erin Finn MD, Kimberly Kripps MD, Christina Chambers MD, Michele Rapp MS, Naomi J. L. Meeks MD, Fang Xu PhD, Wuyan Chen PhD, Austin A. Larson MD, Natalie J. Nokoff MD, MSCS
Publikováno v:
Journal of Investigative Medicine High Impact Case Reports, Vol 9 (2021)
Lipoid congenital adrenal hyperplasia (LCAH) is typically inherited as an autosomal recessive condition. There are 3 reports of individuals with a dominantly acting heterozygous variant leading to a clinically significant phenotype. We report a 46,XY
Externí odkaz:
https://doaj.org/article/31aa024ed14c4fd2a7124a542b3d100f
