Associated Papers
Trio-based whole exome sequencing in patients with ectopic posterior pituitary.
Lyra A et al.
Frontiers in Pediatrics, 2024
Sonic Hedgehog mutations are not a common cause of congenital hypopituitarism in the absence of complex midline cerebral defects.
Paulo SS et al.
Clinical Endocrinology, 2015
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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