Deficiency of TMEM53 causes a previously unknown sclerosing bone disorder by dysregulation of BMP-SMAD signaling
Sclerosing bone disorder (SBD) includes a broad spectrum of monogenic diseases characterised by increased bone density. Here, the authors describe a previously unknown SBD in four families caused by mutations in TMEM53 and demonstrate the role this protein plays in BMP signalling during bone formati...
Main Authors: | , , , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Nature Publishing Group
2021-04-01
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Series: | Nature Communications |
Online Access: | https://doi.org/10.1038/s41467-021-22340-8 |