A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
Abstract
This case series and review of the literature support that patients with pathogenic variants of the GLI2 gene demonstrate an autosomal dominant inheritance pattern, variable expressivity, and incomplete penetrance.
Document Details
- Document Type
- Pub Defense Publication
- Publication Date
- Aug 30, 2020
- Source ID
- 10.1002/ccr3.3085
Entities
People
- Cameron Elward
- Janet Berg
- John M. Oberlin
- Luis Rohena
Organizations
- San Antonio Military Medical Center