Concepedia

Publication | Open Access

Familial Short Stature Caused by Haploinsufficiency of the Insulin-Like Growth Factor I Receptor due to Nonsense-Mediated Messenger Ribonucleic Acid Decay

DOIFull Paper Access

76

Citations

51

References

2009

Year

Fang Peng, I. David Schwartz, Betty D. Johnson, Michael A. Derr, Charles T. Roberts, Vivian Hwa, Ron G. Rosenfeld
The Journal of Clinical Endocrinology & Metabolism

Abstract

The mutation results in haploinsufficiency of IGF1R protein due to nonsense-mediated mRNA decay and is associated with familial short stature.

References

YearCitations

Page 1