Familial short stature is associated with a novel dominant-negative heterozygous insulin-like growth factor 1 receptor (IGF1R) mutation

Clin Endocrinol (Oxf). 2014 Aug;81(2):312-4. doi: 10.1111/cen.12317. Epub 2013 Sep 30.

Authors

Yuki Kawashima¹, Fumihiko Hakuno, Shin-ichi Okada, Tomoyuki Hotsubo, Tomoe Kinoshita, Masanobu Fujimoto, Rei Nishimura, Toshiaki Fukushima, Keiichi Hanaki, Shin-ichiro Takahashi, Susumu Kanzaki

Affiliation

¹ Division of Pediatrics & Perinatology, Tottori University Faculty of Medicine, Yonago, Japan. [email protected].

PMID: 24033502
DOI: 10.1111/cen.12317

No abstract available

Publication types

Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Dwarfism / genetics*
Female
Heterozygote
Humans
Mutation / genetics
Receptor, IGF Type 1 / genetics*

Substances

Receptor, IGF Type 1