A Novel Intronic Pathogenic Variant in STAR 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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Detalles Bibliográficos
Autores principales: Finn, Erin, Kripps, Kimberly, Chambers, Christina, Rapp, Michele, Meeks, Naomi J. L., Xu, Fang, Chen, Wuyan, Larson, Austin A., Nokoff, Natalie J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8114284/
https://www.ncbi.nlm.nih.gov/pubmed/33966472
http://dx.doi.org/10.1177/23247096211014685

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