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

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...

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Detalhes bibliográficos
Publicado no:EBioMedicine
Main Authors: Blum, Werner F., Klammt, Jürgen, Amselem, Serge, Pfäffle, Heike M., Legendre, Marie, Sobrier, Marie-Laure, Luton, Marie-Pierre, Child, Christopher J., Jones, Christine, Zimmermann, Alan G., Quigley, Charmian A., Cutler, Gordon B., Deal, Cheri L., Lebl, Jan, Rosenfeld, Ron G., Parks, John S., Pfäffle, Roland W.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Research paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6197701/
https://ncbi.nlm.nih.gov/pubmed/30266296
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ebiom.2018.09.026
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