Article
MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency.
European journal of endocrinology - 1 Jun 2016
Castinetti Frederic, Reynaud Rachel, Saveanu Alexandru, Jullien Nicolas, Quentien Marie Helene, Rochette Claire, Barlier Anne, Enjalbert Alain, Brue Thierry
Abstract excerpt
Over the last 5 years, new actors involved in the pathogenesis of combined pituitary hormone deficiency in humans have been reported: they included a member of the immunoglobulin superfamily glycoprotein and ciliary G protein-coupled receptors, as well as new transcription factors and signalling molecules. New modes of inheritance for alterations of genes encoding transcription factors have also been described....
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