Partial Primary Deficiency of Insulin-Like Growth Factor (IGF)-I Activity Associated withIGF1Mutation Demonstrates Its Critical Role in Growth and Brain Development
Author(s) -
Irène Netchine,
Salah Azzi,
Muriel Houang,
Danielle Seurin,
Laurence Périn,
JeanMarc Ricort,
Claudine Daubas,
Christine Legay,
Ján Mešter,
R. Herich,
François Godeau,
Yves Le Bouc
Publication year - 2009
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.2009-0452
Subject(s) - endocrinology , medicine , missense mutation , growth factor , biology , insulin like growth factor 2 , mutation , insulin like growth factor , somatomedin , microcephaly , receptor , gene , genetics
IGF-I is essential for fetal and postnatal development. Only three IGF1 defects leading to dramatic loss of binding to its type 1 receptor, IGF-1R, have been reported.
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