Corner Fracture Type Spondylometaphyseal Dysplasia: Overlap with Type II Collagenopathies

Spondylometaphyseal dysplasia (SMD) corner fracture type (also known as SMD ‘Sutcliffe’ type, MIM 184255) is a rare skeletal dysplasia that presents with mild to moderate short stature, developmental coxa vara, mild platyspondyly, corner fracture-like lesions and metaphyseal abnormalities with spari...

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書誌詳細
出版年:Am J Med Genet A
主要な著者: Machol, Keren, Jain, Mahim, Almannai, Mohammed, Orand, Thibault, Lu, James T., Tran, Alyssa, Chen, Yuqing, Schlesinger, Alan, Gibbs, Richard, Bonafe, Luisa, Xavier, Ana Belinda Campos, Unger, Sheila, Superti-Furga, Andrea, Lee, Brendan H., Campeau, Philippe M., Burrage, Lindsay C.
フォーマット: Artigo
言語:Inglês
出版事項: 2016
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5315610/
https://ncbi.nlm.nih.gov/pubmed/27888646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38059
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