Related Experiment Video
Updated: Jun 5, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
Published on: August 20, 2019
Craniosynostosis-4 with Heterozygous Mutation in the ERF Gene: A Case Report
Ragavandran Ranganathan1, Sharada Reddy Jampanapalli1, Divya Barathi2
1Department of Pedodontics and Preventive Dentistry, Govt. Dental College & Hospital, Hyderabad, Telangana, India.
Craniosynostosis-4, a genetic condition caused by an ERF gene mutation, affects skull growth and presents with dental issues. Early dental interventions are crucial for managing complications in affected children.
Area of Science:
- Genetics
- Pediatric Dentistry
- Craniofacial Abnormalities
Background:
- Craniosynostosis (CS) is the premature fusion of cranial sutures, leading to abnormal head shape and potential brain growth restriction.
- It affects 1 in 2,000-2,500 children and can be syndromic or nonsyndromic, with sagittal suture involvement being most common.
- CS can result from genetic mutations or secondary factors during pregnancy.
More Related Videos
08:22A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
Published on: December 1, 2017
10:23Author Spotlight: Three-Dimensional Cephalometric Landmark Annotation Demonstration on Human Cone Beam Computed Tomography Scans
Published on: September 8, 2023
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Pleiotropy