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

Autor:	Akçahan Akalın, Cansu Özşin, Nagihan Koç, Gizem Ürel Demir, Yasemin Alanay, Eda Utine, Koray Boduroğlu, Meryem Tekçiçek, Pelin Özlem Şimşek-Kiper
Rok vydání:	2023
Předmět:	Genetics General Medicine Genetics (clinical)
Zdroj:	European Journal of Medical Genetics. 66:104708
ISSN:	1769-7212
DOI:	10.1016/j.ejmg.2023.104708
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_________::bf7dcaa5f529e07c2fcca04f78e33b07 https://doi.org/10.1016/j.ejmg.2023.104708 Zobrazit plný text záznamu Full Text from ScienceDirect