Identification of a novel TBX5 mutation in a Chinese family with rare symptoms of Holt–Oram syndrome
2022 · Heliyon · 3 citations
https://doi.org/10.1016/j.heliyon.2022.e11774
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Weizhe Shi
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Weizhe Shi is an academic researcher from Guangzhou Women and Children Medical Center. The author has contributed to research in topics: Connective tissue disorders research & Neurogenetic and Muscular Disorders Research & Bone Tumor Diagnosis and Treatments. The author has an h-index of 3, co-authored 11 publications.
ORCID: 0000-0002-3328-5749Papers by this author
worksA novel compound heterozygous variation in the FKBP10 gene causes Bruck syndrome without congenital contractures: A case report
2024 · Heliyon · 3 citations
https://doi.org/10.1016/j.heliyon.2024.e28680
A novel mutation in ext2 caused hereditary multiple exostoses through reducing the synthesis of heparan sulfate
2022 · Figshare · 0 citations
https://doi.org/10.6084/m9.figshare.20018060
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