A 235 Kb deletion at 17q21.33 encompassing the COL1A1, and two additional secondary copy number variants in an infant with type I osteogenesis imperfecta: A rare case report.

Autor: Numbere, Numbereye1 (AUTHOR), Weber, David R.2 (AUTHOR), Porter, George3 (AUTHOR), Iqbal, Mohammed A.1 (AUTHOR) anwar_iqbal@urmc.rochester.edu
Zdroj: Molecular Genetics & Genomic Medicine. Jun2020, Vol. 8 Issue 6, p1-5. 5p.
Databáze: Academic Search Ultimate
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