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A Novel Presentation of Metaphyseal Chondrodysplasia, Schmid Type with Factor VII Deficiency

Metaphyseal chondrodysplasia, Schmid type (MDSC) is a rare inherited autosomal disorder with characteristic skeletal deformities striking on radiological imaging, which includes metaphyseal cupping and fraying. Physical examination reveals short stature in early childhood, frontoparietal bossing, ra...

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Dades bibliogràfiques
Publicat a:Cureus
Autors principals: Ahmed, Mushtaq, Nasir, Saad, Riaz Hashmi, Syeda Shaheera, Iqbal, Zia, Saleem, Ayesha
Format: Artigo
Idioma:Inglês
Publicat: Cureus 2020
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7176329/
https://ncbi.nlm.nih.gov/pubmed/32328382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7759/cureus.7371
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