A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

A Novel Intronic Pathogenic Variant in With a Dominant Negative Mechanism Causes Attenuated Lipoid Congenital Adrenal Hyperplasia

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 child with a novel heterozygous intronic variant...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: SAGE Publishing 2021-05-01
Series:Journal of Investigative Medicine High Impact Case Reports
Online Access:https://doi.org/10.1177/23247096211014685

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https://doi.org/10.1177/23247096211014685

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