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MECHANISMS IN ENDOCRINOLOGY: An update in the genetic aetiologies of combined pituitary hormone deficiency

Archive ouverte | Castinetti, Frederic | CCSD

International audience. 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 ...

Identifying the Deleterious Effect of Rare LHX4 Allelic Variants, a Challenging Issue

Archive ouverte | Rochette, Claire | CCSD

International audience. LHX4 is a LIM homeodomain transcription factor involved in the early steps of pituitary ontogenesis. To date, 8 heterozygous LHX4 mutations have been reported as responsible of combined pitui...

Clinical lessons learned in constitutional hypopituitarism from two decades of experience in a large international cohort

Archive ouverte | Jullien, Nicolas | CCSD

International audience. ContextThe international GENHYPOPIT network collects phenotypical data and screens genetic causes of non‐acquired hypopituitarism.AimsTo describe main phenotype patterns and their evolution t...

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