MIRAGE syndrome is a rare cause of 46,XY DSD born SGA without adrenal insufficiency.
BACKGROUND:MIRAGE syndrome, a congenital multisystem disorder due to pathogenic SAMD9 variants, describes a constellation of clinical features including 46,XY disorders of sex development (DSD), small for gestational age (SGA) and adrenal insufficiency (AI). It is poorly understood whether SAMD9 var...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2018-01-01
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Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC6221305?pdf=render |