Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

Masaki Takagi; Mika Shimizu; Eri Suzuki; Hiroyuki Shinohara; Satoshi Narumi; Tomonobu Hasegawa; Gen Nishimura; Yukihiro Hasegawa

doi:10.1002/ajmg.a.37481

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

Masaki Takagi, Mika Shimizu, Eri Suzuki, Hiroyuki Shinohara, Satoshi Narumi, Tomonobu Hasegawa, Gen Nishimura, Yukihiro Hasegawa

医学部

研究成果: Article › 査読

2 被引用数 (Scopus)

本文言語	English
ページ（範囲）	795-798
ページ数	4
ジャーナル	American Journal of Medical Genetics, Part A
巻	170
号	3
DOI	https://doi.org/10.1002/ajmg.a.37481
出版ステータス	Published - 2016 3月 1

ASJC Scopus subject areas

遺伝学
遺伝学（臨床）

文献へのアクセス

10.1002/ajmg.a.37481

他のファイルとリンク

引用スタイル

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