Relatively high frequency of non‐synonymous <i><scp>GLI</scp>2</i> variants in patients with congenital hypopituitarism without holoprosencephaly

Abstract

A relatively high frequency of non-synonymous GLI2 variants was identified in patients with congenital GH deficiency without other brain defects, and most of these patients presented with CPHD and an ectopic posterior pituitary lobe. In vitro functional assays may contribute to ascertain the deleterious consequences of these variants.