Characterization of a novel COL10A1 variant associated with Schmid‐type metaphyseal chondrodysplasia and a literature review
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چکیده
منابع مشابه
A Japanese familial case of Schmid metaphyseal chondrodysplasia with a novel mutation in COL10A1
Shinji Higuchi1, Masaki Takagi1, 2, Satoshi Shimomura3, Gen Nishimura4, and Yukihiro Hasegawa1, 2 1Department of Endocrinology and Metabolism, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 2Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan 3Department of Orthopedics, Tokyo Metropolitan Children’s Medical Center, Tokyo, Japan 4Department of Radiology, Tokyo ...
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ژورنال
عنوان ژورنال: Molecular Genetics & Genomic Medicine
سال: 2021
ISSN: 2324-9269,2324-9269
DOI: 10.1002/mgg3.1668