UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly

Rhonda E. Schnur, Sairah Yousaf, James Liu, Wendy K. Chung, Lindsay Rhodes, Michael Marble, Regina M. Zambrano, Nara Sobreira, Parul Jayakar, Mary Ella Pierpont, Matthew Schultz, Pavel N. Pichurin, Rory J. Olson, Gail E. Graham, Matthew Osmond, Gustavo Adolfo Contreras-García, Karina A. Campo-Neira, Camilo A. Peñaloza-Mantilla, Mark Flage, Srikar Kuppa, Karina Rdz-Navarro, María J. Guillen Sacoto, Ingrid M. Wentzensen, Maria I. Scarano, Jane Juusola, Carlos E. Prada, Robert B. Hufnagel