Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Autor: Tran, Thao T., Keller, Rachel B., Guillemyn, Brecht, Pepin, Melanie, Corteville, Jane E., Khatib, Samir, Fallah, Mohammad-Sadegh, Zeinali, Sirous, Malfait, Fransiska, Symoens, Sofie, Coucke, Paul, Witters, Peter, Levtchenko, Elena, Bagherian, Hamideh, Nickerson, Deborah A., Bamshad, Michael J., Chong, Jessica X., Byers, Peter H.
Zdroj: In Human Genetics and Genomics Advances 14 October 2021 2(4)
Databáze: ScienceDirect