Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies

Abstract Background Variants in genes encoding multiple subunits of the RNA Polymerase III complex which synthesizes rRNAs, tRNAs, and other small RNAs were previously associated with neurological disorders, such as syndromic hypomyelination leukodystrophies, pontocerebellar hypoplasia, and cerebell...

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發表在:	Genome Medicine
Main Authors:	Francesca Mattioli, Rún Friðriksdóttir, Anne Hebert, Sissy Bassani, Nazia Ibrahim, Shagufta Naz, Jacqueline Chrast, Clara Pailler-Pradeau, Ásmundur Oddsson, Patrick Sulem, Gisli H. Halldorsson, Páll Melsted, Daníel F. Guðbjartsson, Flavia Palombo, Tommaso Pippucci, Nayereh Nouri, Marco Seri, Emily G. Farrow, Carol J. Saunders, Nicolas Guex, Muhammad Ansar, Kari Stefansson, Alexandre Reymond
格式:	Article
語言:	英语
出版:	BMC 2025-04-01
主題:	Autosomal recessive RNA polymerase III Craniofacial anomalies BRF2
在線閱讀:	https://doi.org/10.1186/s13073-025-01463-3