De novo pathogenic DHX30 variants in two cases
- 28 June 2021
- journal article
- letter
- Published by Wiley in Clinical Genetics
- Vol. 100 (3), 350-351
- https://doi.org/10.1111/cge.14013
Abstract
No abstract availableFunding Information
- Japan Society for the Promotion of Science (JP19H03621)
This publication has 4 references indexed in Scilit:
- Genotype–phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disordersGenome Medicine, 2021
- A report of gonadal mosaicism in DHX30-related neurodevelopmental disorderClinical Dysmorphology, 2020
- Comprehensive genetic analysis of 57 families with clinically suspected Cornelia de Lange syndromeJournal of Human Genetics, 2019
- De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderAmerican Journal of Human Genetics, 2017