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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:J Endocr Soc
Päätekijät: 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
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Endocrine Society 2017
Aiheet:
Clinical Research Articles
Linkit: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
Tagit: Lisää tagi
Ei tageja, Lisää ensimmäinen tagi!

Samankaltaisia teoksia