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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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Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: Springer Nature 2016-02-01
Серии:EMBO Molecular Medicine
Предметы:
bone
delayed growth
growth hormone
IGF‐binding proteins
IGF bioavailability
Online-ссылка:https://doi.org/10.15252/emmm.201506106
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