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Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas | Synapse

October 1, 2020Open Access

Identification of Somatic Mutations in CLCN2 in Aldosterone-Producing Adenomas

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Abstract

mutation, which affects the same region of the gene, has not been reported previously (c. 64-2₇4del). These findings prove that WES of CYP11B2-guided mutation-negative APAs can help determine rarer genetic causes of sporadic PA.

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Cite This Study

Rege et al. (Thu,) studied this question.

synapsesocial.com/papers/6a01d18a0cec8eebbd5caeac https://doi.org/https://doi.org/10.1210/jendso/bvaa123

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1Genetic Characteristics of Aldosterone-Producing Adenomas in Blacks2019 · 168 citations
2Profiling transcript levels for steroidogenic enzymes in fetal tissues2003 · 155 citations
3A somatic mutation in CLCN2 identified in a sporadic aldosterone-producing adenoma2019 · 78 citations
4Increased Diagnosis of Primary Aldosteronism, Including Surgically Correctable Forms, in Centers from Five Continents2004 · 954 citations
5Targeted Molecular Characterization of Aldosterone-Producing Adenomas in White Americans2018 · 172 citations