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Biallelic Variants in MESD, Which Encodes a WNT-signaling-related Protein, in Four New Families with Recessively Inherited Osteogenesis Imperfecta

Thao T. Tran,Rachel B. Keller,Brecht Guillemyn,Melanie Pepin, Jane E. Corteville,Samir Khatib,Mohammad-Sadegh Fallah,Sirous Zeinali,Fransiska Malfait,Sofie Symoens,Paul Coucke,Peter Witters,Elena Levtchenko,Hamideh Bagherian,Deborah A. Nickerson,Michael J. Bamshad,Jessica X. Chong,Peter H. Byers

Human Genetics and Genomics Advances（2021）

Cited 5|Views17
Key words
osteogenesis imperfecta,OI,LRP5,LRP6,KDEL receptor,protein recycling from the Golgi
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