A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations. [electronic resource]
- Genetics in medicine : official journal of the American College of Medical Genetics 09 2018
- 1061-1068 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1530-0366
10.1038/gim.2017.214 doi
Australia Basic Helix-Loop-Helix Transcription Factors--genetics Cohort Studies Cranial Sutures--pathology Craniosynostoses--genetics DNA-Binding Proteins--genetics Ephrin-B1--genetics Female Fibroblast Growth Factor 10--genetics Genetic Testing High-Throughput Nucleotide Sequencing--methods Humans Male New Zealand Nuclear Proteins--genetics Prospective Studies Receptor, Fibroblast Growth Factor, Type 1--genetics Repressor Proteins--genetics Retrospective Studies Transcription Factors--genetics Twist-Related Protein 1--genetics