Associated Papers
Variety of genetic defects in GnRH and hypothalamic-pituitary signaling and development in normosmic patients with IHH.
Kałużna M et al.
Frontiers in Endocrinology, 2024
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Kırkgöz T et al.
Archives of Endocrinology and Metabolism, 2023
Truncating and zinc-finger variants in GLI2 are associated with hypopituitarism.
Corder ML et al.
American Journal of Medical Genetics. Part A, 2022
SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).
Budny B et al.
Frontiers in Endocrinology, 2020
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
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
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