A report of gonadal mosaicism inDHX30-related neurodevelopmental disorder
- 1 July 2020
- journal article
- research article
- Published by Ovid Technologies (Wolters Kluwer Health) in Clinical Dysmorphology
- Vol. 29 (3), 161-164
- https://doi.org/10.1097/MCD.0000000000000316
Abstract
No abstract availableThis publication has 4 references indexed in Scilit:
- De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental DisorderAmerican Journal of Human Genetics, 2017
- Lessons learned from additional research analyses of unsolved clinical exome casesGenome Medicine, 2017
- Analysis of protein-coding genetic variation in 60,706 humansNature, 2016
- Clinical application of whole-exome sequencing across clinical indicationsGenetics in Medicine, 2016