Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Identification of a Novel CYP11B2 Variant in a Family with Varying Degrees of Aldosterone Synthase Deficiency

Isolated aldosterone synthase deficiency is a rare autosomal recessive disorder caused by pathogenic variants in CYP11B2, resulting in impaired aldosterone synthesis. We report on a neonate with isolated aldosterone synthase deficiency caused by a novel homozygous CYP11B2 variant Chr8: NM_000498.3:...

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Bibliographic Details
Main Authors: Mark R. Garrelfs, Tuula Rinne, Jacquelien J. Hillebrand, Peter Lauffer, Merijn W. Bijlsma, Hedi L. Claahsen-van der Grinten, Nicole de Leeuw, Martijn J.J. Finken, Joost Rotteveel, Nitash Zwaveling-Soonawala, Max Nieuwdorp, A.S. Paul van Trotsenburg, Christiaan F. Mooij
Format: Article
Language:English
Published: Galenos Yayincilik 2024-03-01
Series:JCRPE
Subjects:
aldosterone synthase
mineralocorticoid
cyb11b2
hypoaldosteronism
Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-76588

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https://jag.journalagent.com/z4/download_fulltext.asp?pdir=jcrpe&un=JCRPE-76588

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