Article
Next generation sequencing-based mutation screening of 86 patients with idiopathic short stature.
Endocrine journal - 28 Oct 2017
Hattori Atsushi, Katoh-Fukui Yuko, Nakamura Akie, Matsubara Keiko, Kamimaki Tsutomu, Tanaka Hiroyuki, Dateki Sumito, Adachi Masanori, Muroya Koji, Yoshida Shinobu, Ida Shinobu, Mitani Marie, Nagasaki Keisuke, Ogata Tsutomu, Suzuki Erina, Hata Kenichiro, Nakabayashi Kazuhiko, Matsubara Yoichi, Narumi Satoshi, Tanaka Toshiaki, Fukami Maki
Abstract excerpt
Although mutations in ACAN, FGFR3, NPR2, and SHOX typically lead to skeletal dysplasia, and mutations in GHRHR, GH1, GHR, STAT5B, IGF1, IGFALS, and IGF1R usually underlie hormonal defects of the growth hormone (GH)-insulin-like growth factor 1 (IGF1) axis, such mutations have also been identified in patients with idiopathic short stature (ISS). Of these, SHOX abnormalities are known to account for a certain...
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