Combined pituitary hormonal deficiency (CPHD) can result from mutations within genes that encode transcription factors. This study evaluated the frequency of mutations in these genes in a cohort of 144 unrelated Italian patients with CPHD and estimated the overall prevalence of mutations across different populations using a systematic literature review.

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort

DE RIENZO, Francesca;BELLONE, Simonetta;BABU, DEEPAK;FUSCO, ILEANA;PRODAM, Flavia;PETRI, Antonella;MUNISWAMY, RANJITH;BONA, Gianni;GIORDANO, Mara
2015-01-01

Abstract

Combined pituitary hormonal deficiency (CPHD) can result from mutations within genes that encode transcription factors. This study evaluated the frequency of mutations in these genes in a cohort of 144 unrelated Italian patients with CPHD and estimated the overall prevalence of mutations across different populations using a systematic literature review.
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11579/70344
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