A nonsense mutation in the first exon of CHD8 causes a multi-organ disease phenotype: Is it a novel syndrome or a detection of an additional gene resulting in CHARGE syndrome
Bildiriler > Özet Bildiri · 2020
Yazarlar: Tahir ATİK, Semih Şimşir Özgüç, Esra IŞIK, Feriştah Ferda ÖZKINAY
European Society Annual meeting-2020, Almanya, Uluslararası, Poster, Özet Bildiri, 2020-2020