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
Conference paper > Summary Text · 2020
Authors: Tahir ATİK, Semih Şimşir Özgüç, Esra IŞIK, Feriştah Ferda ÖZKINAY
European Society Annual meeting-2020, Germany, International, Poster, Summary Text, 2020-2020