Caricamento...

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...

Descrizione completa

Salvato in:
Dettagli Bibliografici
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018-10-01
Serie:EBioMedicine
Accesso online:http://www.sciencedirect.com/science/article/pii/S2352396418303840
Tags: Aggiungi Tag
Nessun Tag, puoi essere il primo ad aggiungerne! !