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Monogenic syndromes 

Monogenic syndromes
Chapter:
Monogenic syndromes
Author(s):

Joseph Cheriyan

, Carmel M. McEniery

, and Ian B. Wilkinson

DOI:
10.1093/med/9780199229550.003.05
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date: 25 June 2022

Introduction 170

Pathophysiology 172

Apparent mineralocorticoid excess 174

Mineralocorticoid receptor-activating mutation 175

Gordon's syndrome 176

Hypertensive congenital adrenal hyperplasia 177

Glucocorticoid remediable aldosteronism 178

Liddle's syndrome 179

Bartter's syndrome 180

Gitelman's syndrome 182

We are indebted to Dr Kevin O'Shaughnessy for his help with this chapter....

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