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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Pubblicato in:EBioMedicine
Autori principali: 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.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2018
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Research paper
Accesso online: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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