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Schnur RE, Yousaf S, Liu J, Chung WK, Rhodes L, Marble M, Zambrano RM, Sobreira N, Jayakar P, Pierpont ME, Schultz MJ, Pichurin PN, Olson RJ, Graham GE, Osmond M, Contreras-García GA, Campo-Neira KA, Peñaloza-Mantilla CA, Flage M, Kuppa S, Navarro K, Sacoto MJG, Wentzensen IM, Scarano MI, Juusola J, Prada CE, Hufnagel RB. UBA2 variants underlie a recognizable syndrome with variable aplasia cutis congenita and ectrodactyly. Genetics in Medicine. 2021 Sep;23(9):1624–35. doi: 10.1038/s41436-021-01182-1. |