ea0073pl7 | Plenary 7: Central and Eastern European heritage in genetics of hypopituitarism – how the prevalent ancestral PROP 1 gene variants spread overseas | ECE2021
Lebl Jan
Pituitary development is governed by activation of a cascade of transcription factors that orchestrate both pituitary morphogenesis and differentiation. Among them, loss of function of PROP1 is the most common genetic cause of combined pituitary hormone deficiency (CPHD) with two PROP1 gene variants (c.[301_302delAG];[301_302delAG] and c.[150delA];[150delA]) being most prevalent. We identified the homozygous c.[301_302delAG] variant in 70% out of 67 Lithuania...