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

Research output: Contribution to journal › Article › peer-review

2 Citations (Scopus)

Original language	English
Pages (from-to)	795-798
Number of pages	4
Journal	American Journal of Medical Genetics, Part A
Volume	170
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.a.37481
Publication status	Published - 2016 Mar 1

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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10.1002/ajmg.a.37481

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

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T1 - Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia

AU - Takagi, Masaki

AU - Shimizu, Mika

AU - Suzuki, Eri

AU - Shinohara, Hiroyuki

AU - Narumi, Satoshi

AU - Hasegawa, Tomonobu

AU - Nishimura, Gen

AU - Hasegawa, Yukihiro

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M3 - Article

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

ASJC Scopus subject areas

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