Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.

Citation:
Mannucci I, Dang NDP, Huber H, Murry JB, ....... Baynam G, et al. Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders. Genome Med. 2021;13(1).

Keywords:
DHX30; neurodevelopmental disorder; zebrafish

Abstract:
We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher, and our network of collaborators.