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Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients

Authors :
Akçahan Akalın
Cansu Özşin
Nagihan Koç
Gizem Ürel Demir
Yasemin Alanay
Eda Utine
Koray Boduroğlu
Meryem Tekçiçek
Pelin Özlem Şimşek-Kiper
Source :
European Journal of Medical Genetics. 66:104708
Publication Year :
2023
Publisher :
Elsevier BV, 2023.

Subjects

Subjects :
Genetics
General Medicine
Genetics (clinical)

Details

ISSN :
17697212
Volume :
66
Database :
OpenAIRE
Journal :
European Journal of Medical Genetics
Accession number :
edsair.doi...........bf7dcaa5f529e07c2fcca04f78e33b07
Full Text :
https://doi.org/10.1016/j.ejmg.2023.104708
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