Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1
ABSTRACT Background SOST encodes a secreted glycoprotein that is similar in sequence to the differential screening‐selected gene aberrative in neuroblastoma (DAN) family of bone morphogenetic protein (BMP) antagonists. Pathogenic variants in the SOST gene result in sclerosteosis, van Buchem disease...
Wedi'i Gadw mewn:
| Prif Awduron: | , , , , , , , , , , |
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| Fformat: | Artigo |
| Iaith: | Inglês |
| Cyhoeddwyd: |
Wiley
2025-07-01
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| Cyfres: | Molecular Genetics & Genomic Medicine |
| Pynciau: | |
| Mynediad Ar-lein: | https://doi.org/10.1002/mgg3.70109 |
| Tagiau: |
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