Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

doi:10.1038/jhg.2016.18

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Article

Systematic molecular analyses of SHOX in Japanese patients with idiopathic short stature and Leri-Weill dyschondrosteosis.

Journal of human genetics - 1 Jul 2016

Shima Hirohito, Tanaka Toshiaki, Kamimaki Tsutomu, Dateki Sumito, Muroya Koji, Horikawa Reiko, Kanno Junko, Adachi Masanori, Naiki Yasuhiro, Tanaka Hiroyuki, Mabe Hiroyo, Yagasaki Hideaki, Kure Shigeo, Matsubara Yoichi, Tajima Toshihiro, Kashimada Kenichi, Ishii Tomohiro, Asakura Yumi, Fujiwara Ikuma, Soneda Shun, Nagasaki Keisuke, Hamajima Takashi, Kanzaki Susumu, Jinno Tomoko, Ogata Tsutomu, Fukami Maki

Abstract excerpt

The etiology of idiopathic short stature (ISS) and Leri-Weill dyschondrosteosis (LWD) in European patients is known to include SHOX mutations and copy-number variations (CNVs) involving SHOX and/or the highly evolutionarily conserved non-coding DNA elements (CNEs) flanking the gene. However, the frequency and types of SHOX abnormalities in non-European patients and the clinical importance of mutations in the CNEs...

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PMID: 26984564
DOI: 10.1038/jhg.2016.18

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SHOX

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