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A novel missense mutation in NR0B1 causes delayed-onset primary adrenal insufficiency in adults.

Chang-Myung OhS ChunJ-E LeeJ S LeeS ParkH Y GeeS W Kim
Published in: Clinical genetics (2017)
A novel missense mutation (c.775T>C; p.ser259Pro) in the NROBI gene cause a late-onset adrenal insufficiency without hypogonadism.
Keyphrases
  • late onset
  • early onset
  • intellectual disability
  • genome wide
  • copy number
  • replacement therapy
  • gene expression
  • dna methylation
  • genome wide identification
  • genome wide analysis