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Discovery of MIRAGE syndrome

1 Jan 2022

Abstract excerpt

Since the first report in 2009, whole exome sequencing has become the most effective and efficient research tool in human genetics. MIRAGE syndrome is a novel single-gene disorder discovered through whole-exome sequencing for pediatric patients with adrenal insufficiency of unknown etiology, and is caused by de novo heterozygous variants in SAMD9. MIRAGE syndrome was initially discovered as a systemic disease...

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PMID: 35972063
DOI: 10.1111/ped.15283

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Related research

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Discovery of MIRAGE syndromePMID 35972063Read ↗

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