Associated Papers
A Novel De Novo Mutation of the DHX30 Gene in a Patient With Neurodevelopmental Disorder, Severe Motor Impairment, and Absent Language (NEDMIAL).
Alomaim MM et al.
Cureus, 2023
De novo pathogenic DHX30 variants in two cases.
Miyake N et al.
Clinical Genetics, 2021
A Japanese adult and two girls with NEDMIAL caused by de novo missense variants in DHX30.
Ueda K et al.
Human Genome Variation, 2021
Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders.
Mannucci I et al.
Genome Medicine, 2021
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