TAPT1—at the crossroads of extracellular matrix and signaling in Osteogenesis imperfecta
Graphical Abstract Osteogenesis imperfecta (OI) is a hereditary skeletal disorder primarily affecting collagen type I structure and function, causing bone fragility and occasionally versatile extraskeletal symptoms. This study expands the spectrum of OI‐causing TAPT1 mutations and links extracellula...
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| Main Authors: | Julia Etich, Oliver Semler, Nicola L Stevenson, Alice Stephan, Roberta Besio, Nadia Garibaldi, Nadine Reintjes, Claudia Dafinger, Max Christoph Liebau, Ulrich Baumann, Matthias Mörgelin, Antonella Forlino, David J Stephens, Christian Netzer, Frank Zaucke, Mirko Rehberg |
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| Format: | Article |
| Language: | English |
| Published: |
Springer Nature
2023-06-01
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| Series: | EMBO Molecular Medicine |
| Online Access: | https://doi.org/10.15252/emmm.202317528 |
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