A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor | Zendy

M.J.E. Walenkamp | Zendy; H.J. van der Kamp | Zendy; Alberto M. Pereira | Zendy; Sarina G. Kant | Zendy; Hermine A. van Duyvenvoorde | Zendy; M. Femke Kruithof | Zendy; M.H. Breuning | Zendy; Johannes A. Romijn | Zendy; Marcel Karperien | Zendy; J. M. Wit | Zendy

Open Access

A Variable Degree of Intrauterine and Postnatal Growth Retardation in a Family with a Missense Mutation in the Insulin-Like Growth Factor I Receptor

Author(s) -

M.J.E. Walenkamp,

H.J. van der Kamp,

Alberto M. Pereira,

Sarina G. Kant,

Hermine A. van Duyvenvoorde,

M. Femke Kruithof,

M.H. Breuning,

Johannes A. Romijn,

Marcel Karperien,

J. M. Wit

Publication year - 2006

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jc.2005-1597

Subject(s) - missense mutation , mutation , insulin like growth factor , growth retardation , genetics , endocrinology , biology , medicine , growth factor , receptor , pregnancy , gene

The type 1 IGF-I receptor (IGF1R) mediates the biological functions of IGF-I. Binding of IGF-I to the IGF1R results in autophosphorylation of the intracellular beta-subunit and activation of intracellular signaling.

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