Monoallelic and biallelic CREB3L1 variant causes mild and severe osteogenesis imperfecta, respectively

Rachel B. Keller, Thao Tran, Shawna M. Pyott, Melanie Pepin, Ravi Savarirayan, George McGillivray, Deborah A. Nickerson, Michael J. Bamshad, Peter H. Byers

Genetics in Medicine · 2017 · 74 citations · 28 references

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