IGF1R mutations as cause of SGA
J Klammt, W Kiess, R Pfäffle - … practice & research Clinical endocrinology & …, 2011 - Elsevier
Until 2003 monogenetic aberrations that lead to a child that is born too small for gestational
age (SGA) were poorly defined. With the first report of mutations within the insulin-like
growth factor type 1 receptor (IGF1R) gene in two non-syndromic patients born SGA, who
failed to thrive despite normal or even elevated IGF1 serum concentrations the concept of
IGF1 resistance has been established. The identification of additional individuals bearing
IGF1R mutations along with comparative, genetic, structural and biochemical studies has …
age (SGA) were poorly defined. With the first report of mutations within the insulin-like
growth factor type 1 receptor (IGF1R) gene in two non-syndromic patients born SGA, who
failed to thrive despite normal or even elevated IGF1 serum concentrations the concept of
IGF1 resistance has been established. The identification of additional individuals bearing
IGF1R mutations along with comparative, genetic, structural and biochemical studies has …