A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations.

Lee, Eric

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