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

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

Abstract 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 pregna...

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Main Authors: Andrew Dauber, María T Muñoz‐Calvo, Vicente Barrios, Horacio M Domené, Soren Kloverpris, Clara Serra‐Juhé, Vardhini Desikan, Jesús Pozo, Radhika Muzumdar, Gabriel Á Martos‐Moreno, Federico Hawkins, Héctor G Jasper, Cheryl A Conover, Jan Frystyk, Shoshana Yakar, Vivian Hwa, Julie A Chowen, Claus Oxvig, Ron G Rosenfeld, Luis A Pérez‐Jurado, Jesús Argente
Format: Article
Language:English
Published: Springer Nature 2016-02-01
Series:EMBO Molecular Medicine
Subjects:
bone
delayed growth
growth hormone
IGF‐binding proteins
IGF bioavailability
Online Access:https://doi.org/10.15252/emmm.201506106
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https://doi.org/10.15252/emmm.201506106

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