Open AccessA case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance
Author(s) -
Elward Cameron,
Berg Janet,
Oberlin John M.,
Rohena Luis
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.3085
Subject(s) - penetrance , expressivity , inheritance (genetic algorithm) , genetics , gene , medicine , series (stratigraphy) , phenotype , biology , paleontology
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.