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

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
170
3
DOI
出版ステータスPublished - 2016 3 1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

引用スタイル