Associated Papers
A case series of a mother and two daughters with a GLI2 gene deletion demonstrating variable expressivity and incomplete penetrance.
Elward C et al.
Clinical Case Reports, 2020
A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Kevelam SH et al.
American Journal of Medical Genetics. Part A, 2012
Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
França MM et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Select a paper to view details