Associated Papers
Novel mechanism of pituitary hormone deficiency: genetic variants shift splicing to produce a dominant negative transcription factor isoform.
Brue T et al.
European Journal of Endocrinology, 2021
Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
De Rienzo F et al.
Clinical Endocrinology, 2015
A novel recessive splicing mutation in the POU1F1 gene causing combined pituitary hormone deficiency.
Carlomagno Y et al.
Journal of Endocrinological Investigation, 2009
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