Mutations in pregnancy‐associated plasma protein A2 cause short stature due to low IGF‐I availability

Mutations in multiple genes of the growth hormone/IGF‐I axis have been identified in syndromes marked by growth failure. However, no pathogenic human mutations have been reported in the six high‐affinity IGF‐binding proteins (IGFBPs) or their regulators, such as the metalloproteinase pregnancy‐assoc...

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Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: Dauber, Andrew, Muñoz‐Calvo, María T, Barrios, Vicente, Domené, Horacio M, Kloverpris, Soren, Serra‐Juhé, Clara, Desikan, Vardhini, Pozo, Jesús, Muzumdar, Radhika, Martos‐Moreno, Gabriel Á, Hawkins, Federico, Jasper, Héctor G, Conover, Cheryl A, Frystyk, Jan, Yakar, Shoshana, Hwa, Vivian, Chowen, Julie A, Oxvig, Claus, Rosenfeld, Ron G, Pérez‐Jurado, Luis A, Argente, Jesús
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4818753/
https://ncbi.nlm.nih.gov/pubmed/26902202
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201506106
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