Biallelic missense CEP55 variants cause prenatal MARCH syndrome.
Fu L, Yamamoto Y, Seyama R, Matsuzawa N, Nagaoka M, Yao T, Hamada K, Ogata K, Suzuki T, Tsuchida N, Uchiyama Y, Koshimizu E, Misawa K, Miyatake S, Mizuguchi T, Fujita A, Itakura A, Matsumoto N.
Fu L, et al. Among authors: nagaoka m.
J Hum Genet. 2024 Oct 16. doi: 10.1038/s10038-024-01298-7. Online ahead of print.
J Hum Genet. 2024.
PMID: 39414989