Novel Dominant-Negative GH Receptor Mutations Expands the Spectrum of GHI and IGF-I Deficiency

CONTEXT: Autosomal-recessive mutations in the growth hormone receptor (GHR) are the most common causes for primary growth hormone insensitivity (GHI) syndrome with classical GHI phenotypically characterized by severe short stature and marked insulin-like growth factor (IGF)-I deficiency. We report t...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Vairamani, Kanimozhi, Merjaneh, Lina, Casano-Sancho, Paula, Sanli, Merve Emecen, David, Alessia, Metherell, Louise A., Savage, Martin O., Sánchez del Pozo, Jaime, Backeljauw, Philippe F., Rosenfeld, Ron G., Aisenberg, Javier, Dauber, Andrew, Hwa, Vivian
Formato: Artigo
Idioma:Inglês
Publicado em: Endocrine Society 2017
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5686656/
https://ncbi.nlm.nih.gov/pubmed/29188236
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/js.2016-1119
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