Article
Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.
European journal of medical genetics - 1 Apr 2023
Akalın Akçahan, Özşin Cansu, Koç Nagihan, Demir Gizem Ürel, Alanay Yasemin, Utine Eda, Boduroğlu Koray, Tekçiçek Meryem, Şimşek-Kiper Pelin Özlem
Abstract excerpt
Genetic skeletal disorders are clinically and genetically heterogeneous group of disorders that affect the normal development, growth, and maintenance of the human skeleton. Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED-SL/AC; MIM# 271665) is a rare autosomal recessive genetic skeletal disorder characterized by distinctive facial features, disproportionate short stature,...
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