Article
Identification of Novel PROP1 and POU1F1 Mutations in Patients with Combined Pituitary Hormone Deficiency.
Hormone and metabolic research = Hormon- und Stoffwechselforschung = Hormones et metabolisme - 1 Dec 2016
Birla S, Khadgawat R, Jyotsna V P, Jain V, Garg M K, Bhalla A S, Sharma A
Abstract excerpt
Growth hormone deficiency (GHD) results from variations affecting the production and release of growth hormone (GH) and is of 2 types: isolated growth hormone deficiency (IGHD) and combined pituitary hormone deficiency (CPHD). IGHD results from mutations in GH1 and GHRHR while CPHD is associated with defects in transcription factor genes PROP1, POU1F1, and HESX1. The present study reports on screening of POU1F1,...
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