Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders
Abstract Background We aimed to define the clinical and variant spectrum and to provide novel molecular insights into the DHX30-associated neurodevelopmental disorder. Methods Clinical and genetic data from affected individuals were collected through Facebook-based family support group, GeneMatcher,...
Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
BMC
2021-05-01
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Series: | Genome Medicine |
Online Access: | https://doi.org/10.1186/s13073-021-00900-3 |