A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.

@article{Inagaki2007AFI,
  title={A familial insulin-like growth factor-I receptor mutant leads to short stature: clinical and biochemical characterization.},
  author={Kenjiro Inagaki and Anatoly Tiulpakov and Petr Rubtsov and Polina Sverdlova and Valentina A. Peterkova and Shoshana Yakar and Sergei N. Terekhov and Derek Leroith},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2007},
  volume={92 4},
  pages={1542-8}
}
CONTEXT IGF-I/IGF-I receptor (IGF-IR) signaling pathways play important roles in longitudinal growth. A novel Arg481Glu (R481Q) mutation in IGF-IR was detected in a family with intrauterine and postnatal growth retardation. OBJECTIVE The objective of the study was to explore the mechanism whereby the R481Q mutation may be causative in growth retardation. PATIENTS A 13-yr-old girl with short stature was studied for functional analysis of the R481Q mutation in the IGF-IR. RESULTS Two… CONTINUE READING

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