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Marked clinical heterogeneity in congenital hyperinsulinism due to a novel homozygous ABCC8 mutation.

Kei TakasawaYuichi MiyakawaYoko SaitoEriko AdachiTsunanori ShideiAkito SutaniMaki GauRyuichi NakagawaAtsuko TakiKenichi KashimadaTomohiro Morio
Published in: Clinical endocrinology (2021)
The phenotypic variation in homozygotes could not be explained by splicing abnormalities. Though early genetic diagnosis of KATP CHI could contribute to selecting appropriate therapeutic options, more deliberate selection of therapeutic options in diffuse CHI due to biallelic ABCC8 mutations may be required.
Keyphrases
  • single cell
  • intellectual disability
  • genome wide
  • low grade
  • copy number
  • dna methylation
  • autism spectrum disorder