Triple mosaic variants of PURA in a patient with multiple congenital anomalies.
Fujita A, Suenaga Y, Takeshita E, Takahashi Y, Suzuki Y, Ohori S, Tsuchida N, Uchiyama Y, Koshimizu E, Miyatake S, Mizuguchi T, Matsumoto N.
Fujita A, et al. Among authors: takahashi y.
J Hum Genet. 2025 Jan 14. doi: 10.1038/s10038-024-01315-9. Online ahead of print.
J Hum Genet. 2025.
PMID: 39809889