A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene

Lignende værker

• A novel neurodevelopmental disorder associated with compound heterozygous variants in the huntingtin gene
  af: Rodan, Lance H, et al.
  Udgivet: (2016)
• Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy
  af: O’Donnell-Luria, Anne H., et al.
  Udgivet: (2019)
• Mutations causing Lopes-Maciel-Rodan syndrome are huntingtin hypomorphs
  af: Jung, Roy, et al.
  Udgivet: (2021)
• Genetic Counseling in Neurodevelopmental Disorders
  af: Blesson, Alyssa, et al.
  Udgivet: (2020)
• CompoundHetVIP: Compound Heterozygous Variant Identification Pipeline
  af: Miller, Dustin B., et al.
  Udgivet: (2021)