Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia
Takagi, Masaki, Shimizu, Mika, Suzuki, Eri, Shinohara, Hiroyuki, Narumi, Satoshi, Hasegawa, Tomonobu, Nishimura, Gen, Hasegawa, YukihiroVolume:
170
Language:
english
Journal:
American Journal of Medical Genetics Part A
DOI:
10.1002/ajmg.a.37481
Date:
March, 2016
File:
PDF, 725 KB
english, 2016