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

Research output: Contribution to journalArticle

2 Citations (Scopus)
Original languageEnglish
Pages (from-to)795-798
Number of pages4
JournalAmerican Journal of Medical Genetics, Part A
Volume170
Issue number3
DOIs
Publication statusPublished - 2016 Mar 1

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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