The Phenotypic and Genotypic Spectrum of BRPF1-Related Disorder: 29 New Patients and Literature Review
BRPF1相关疾病的表型和基因型谱:29例新病例及文献综述
期刊:Clinical Genetics
影响因子:2.3
doi:10.1111/cge.14688
Colson, Cindy; Tessarech, Marine; Boucher-Brischoux, Elise; Boute-Benejean, Odile; Vincent-Delorme, Catherine; Vanlerberghe, Clémence; Boussion, Simon; Cunff, Justine Le; Duban-Bedu, Bénédicte; Faivre, Laurence; Thauvin, Christel; Philippe, Christophe; Bruel, Ange-Line; Tran Mau-Them, Frédéric; Houdayer, Clara; Lesca, Gaetan; Putoux, Audrey; Lévy, Jonathan; Patat, Olivier; Rio, Marlène; Ghoumid, Jamal; Smol, Thomas