Chromatin assembly factor subunit CHAF1A as a monogenic cause for oculo-auriculo-vertebral spectrum
染色质组装因子亚基 CHAF1A 是眼耳椎谱疾病的单基因病因。
期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-024-01698-5
Pingault, Véronique; Neiva-Vaz, Cécilia; de Oliveira, Judite; Martínez-Gil, Núria; Lasa-Aranzasti, Amaia; Campos, Berta; Lakeman, Inge M M; Nibbeling, Esther A R; Stoeva, Radka; Jayakar, Parul; Dabir, Tabib; Elloumi, Houda Zghal; Strong, Alanna; Hanein, Sylvain; Picard, Arnaud; Ochsenbein, Francoise; Blanc, Pierre; Amiel, Jeanne