Associated Papers
Comprehensive Identification of Pathogenic Gene Variants in Patients With Neuroendocrine Disorders.
Vishnopolska SA et al.
The Journal of Clinical Endocrinology and Metabolism, 2021
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
Novel GLI2 mutations identified in patients with Combined Pituitary Hormone Deficiency (CPHD): Evidence for a pathogenic effect by functional characterization.
Babu D et al.
Clinical Endocrinology, 2019
Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Fang Q et al.
Endocrine Reviews, 2016
Role of GLI2 in hypopituitarism phenotype.
Arnhold IJ et al.
Journal of Molecular Endocrinology, 2015
The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
Gregory LC et al.
Clinical Endocrinology, 2015
Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
França MM et al.
Clinical Endocrinology, 2013
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
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