UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly
UBA2 变异是导致一种可识别综合征的根本原因,该综合征表现为不同程度的先天性皮肤发育不全和缺指畸形。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01182-1
Schnur, Rhonda E; Yousaf, Sairah; Liu, James; Chung, Wendy K; Rhodes, Lindsay; Marble, Michael; Zambrano, Regina M; Sobreira, Nara; Jayakar, Parul; Pierpont, Mary Ella; Schultz, Matthew J; Pichurin, Pavel N; Olson, Rory J; Graham, Gail E; Osmond, Matthew; Contreras-García, Gustavo A; Campo-Neira, Karina A; Peñaloza-Mantilla, Camilo A; Flage, Mark; Kuppa, Srikar; Navarro, Karina; Sacoto, Maria J Guillen; Wentzensen, Ingrid M; Scarano, Maria I; Juusola, Jane; Prada, Carlos E; Hufnagel, Robert B