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Article

Heterozygous nonsense mutations near the C-terminal region of IGF1R in two patients with small-for-gestational-age-related short stature.

Clinical endocrinology - 1 Dec 2015

Fujimoto Masanobu, Kawashima Sonoyama Yuki, Hamajima Naoki, Hamajima Takashi, Kumura Yumiko, Miyahara Naoki, Nishimura Rei, Adachi Kaori, Nanba Eiji, Hanaki Keiichi, Kanzaki Susumu

Abstract excerpt

OBJECTIVE: The type I insulin-like growth factor I receptor (IGF1R) plays an important role in growth. We aimed to evaluate the detailed mechanism underlying the effect of IGF1R on human growth. PATIENTS AND METHODS: We have performed sequence analysis of IGF1R in 55 patients with SGA short stature in Japan, since 2004, and identified novel heterozygous nonsense mutations in 2 patients: an 8-year-old Japanese boy...

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PMID: 25866162
DOI: 10.1111/cen.12791

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