Expanding the phenotype of NUP85 mutations beyond nephrotic syndrome to primary autosomal recessive microcephaly and Seckel syndrome spectrum disorders
将 NUP85 突变的表型从肾病综合征扩展到原发性常染色体隐性小头畸形和塞克尔综合征谱系障碍
期刊:Human Molecular Genetics
影响因子:3.1
doi:10.1093/hmg/ddab160
Ethiraj Ravindran, Ramona Jühlen, Carlos H Vieira-Vieira, Thuong Ha, Yuval Salzberg, Boris Fichtman, Lena Luise-Becker, Nuno Martins, Sylvie Picker-Minh, Paraskevi Bessa, Peer Arts, Matilda R Jackson, Ajay Taranath, Benjamin Kamien, Christopher Barnett, Na Li, Victor Tarabykin, Gisela Stoltenburg-Di