Article

Case Report: Application of whole exome sequencing for accurate diagnosis of rare syndromes of mineralocorticoid excess

2017-09-04

Abstract excerpt

Syndromes of mineralocorticoid excess (SME) are closely related clinical manifestations occurring within a specific set of diseases. Overlapping clinical manifestations of such syndromes often create a dilemma in accurate diagnosis, which is crucial for disease surveillance and management especially in rare genetic disorders. Here we demonstrate the use of whole exome sequencing (WES) for accurate diagnosis of rar...

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Literature Corpus work: 21b379d4-f253-5083-95c5-7611d508f944
DOI: 10.12688/f1000research.8779.2

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