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

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@article{Takagi2016WholeES, title={Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.}, author={Masaki Takagi and Mika Shimizu and Eri Suzuki and Hiroyuki Shinohara and Satoshi Narumi and Tomonobu Hasegawa and Gen Nishimura and Yukihiro Hasegawa}, journal={American journal of medical genetics. Part A}, year={2016}, volume={170 3}, pages={795-8} }