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

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

Summary: The bone disorder osteogenesis imperfecta (OI) is genetically heterogeneous. Most affected individuals have an autosomal dominant disorder caused by heterozygous variants in either of the type I collagen genes (COL1A1 or COL1A2). To date, two reports have linked Mesoderm Development LRP Cha...

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Bibliographic Details
Main Authors: 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
Format: Article
Language:English
Published: Elsevier 2021-10-01
Series:HGG Advances
Subjects:
osteogenesis imperfecta
OI
LRP5
LRP6
KDEL receptor
protein recycling from the Golgi
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247721000324

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http://www.sciencedirect.com/science/article/pii/S2666247721000324

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