Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomesResearch in context

Screening a large pediatric cohort with GH deficiency for mutations in genes regulating pituitary development and GH secretion: Frequencies, phenotypes and growth outcomesResearch in context

Background: Pituitary development and GH secretion are orchestrated by multiple genes including GH1, GHRHR, GLI2, HESX1, LHX3, LHX4, PROP1, POU1F1, and SOX3. We aimed to assess their mutation frequency and clinical relevance in children with severe GH deficiency (GHD). Methods: The Genetics and Neur...

Full description

Bibliographic Details
Main Authors: Werner F. Blum, Jürgen Klammt, Serge Amselem, Heike M. Pfäffle, Marie Legendre, Marie-Laure Sobrier, Marie-Pierre Luton, Christopher J. Child, Christine Jones, Alan G. Zimmermann, Charmian A. Quigley, Gordon B. Cutler, Jr, Cheri L. Deal, Jan Lebl, Ron G. Rosenfeld, John S. Parks, Roland W. Pfäffle
Format: Article
Language:English
Published: Elsevier 2018-10-01
Series:EBioMedicine
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396418303840

Internet

http://www.sciencedirect.com/science/article/pii/S2352396418303840

Similar Items