A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate

Autor: Simsek-Kiper, Pelin Ozlem, Kosukcu, Can, Akgun-Dogan, Ozlem, Gocmen, Rahsan, Utine, Gulen Eda, Soyer, Tutku, Korkmaz-Toygar, Ayse, Nishimura, Gen, Alikasifoglu, Mehmet, Boduroglu, Koray
Zdroj: In European Journal of Medical Genetics January 2019 62(1):21-26
Databáze: ScienceDirect