Associated Papers
Trio-based whole exome sequencing in patients with ectopic posterior pituitary.
Lyra A et al.
Frontiers in Pediatrics, 2024
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Corder ML et al.
American Journal of Medical Genetics. Part A, 2022
Broad phenotypes in heterozygous NR5A1 46,XY patients with a disorder of sex development: an oligogenic origin?
Camats N et al.
European Journal of Human Genetics : Ejhg, 2018
Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Bear KA et al.
Journal of Medical Genetics, 2014
Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
Flemming GM et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
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