Novel Loss of Function Variant in <scp><i>SOST</i></scp> From Chinese Family Results in Sclerosteosis 1

The report presents new evidence for the clinical diagnosis of SOST-related facial numbness and expands the variant spectrum of SOST.

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Publication Details

Journal
Molecular Genetics & Genomic Medicine
Published
2025-07-01
DOI
https://doi.org/10.1002/mgg3.70109
Primary Topic
Bone health and treatments
Type
article
Field-Weighted Citation Impact
0.00

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article

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1

Bijun Zhang, Xintao Wu, Yuting Jin, Jianhua Feng et al.
Molecular Genetics & Genomic Medicine
Bone health and treatments
article

Novel Loss of Function Variant in SOST From Chinese Family Results in Sclerosteosis 1

Bijun Zhang, Xintao Wu, Yuting Jin, Jianhua Feng, Xin Lin, Chudi Zhang, Ye Wang, Yuting Lou, Pu Miao, Yufan Guo, Yu Gu
article en

Abstract

The report presents new evidence for the clinical diagnosis of SOST-related facial numbness and expands the variant spectrum of SOST.

Molecular Genetics & Genomic MedicineVol. 13(7)
Second Affiliated Hospital of Zhejiang University (CN), Zhejiang University (CN)
National Natural Science Foundation of China, Science and Technology Department of Zhejiang Province
Good health and well-being
Openalex Percentile: Top 76%
Bone health and treatments
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