All Stories

  1. Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital
  2. DOCK3 -related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia
  3. Natural history of aortic root dilation through young adulthood in a hypermobile Ehlers-Danlos syndrome cohort