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

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...

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Détails bibliographiques
Publié dans:F1000Res
Auteurs principaux: Narayanan, Ranjit, Karuthedath Vellarikkal, Shamsudheen, Jayarajan, Rijith, Verma, Ankit, Dixit, Vishal, Scaria, Vinod, Sivasubbu, Sridhar
Format: Artigo
Langue:Inglês
Publié: F1000Research 2017
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC5635450/
https://ncbi.nlm.nih.gov/pubmed/29067160
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.8779.2
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