Biallelic POLR3A variants cause Wiedemann-Rautenstrauch syndrome with atypical brain involvement
Byungseung Moon, Minhye Kim, Hye Jin Kim, Jae So Cho, Hey Joon Son, Byung Chan Lim, Ki Joong Kim, Jong Hee Chae, Soo Yeon Kim
Clin Exp Pediatr. 2023;66(3):142-144.   Published online 2022 Dec 30     DOI: https://doi.org/10.3345/cep.2022.01144
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Further delineation of Wiedemann‐Rautenstrauch syndrome linked with POLR3A
Amjad Khan, Bushra Al Shamsi, Maryam Al Shehhi, Amna A. Kashgari, Aaisha Al Balushi, Fahad A. Al Dihan, Mohannad A. Alghamdi, Abothnain Manal, Ana C. González‐Álvarez, Stefan T. Arold, Wafaa Eyaid
Molecular Genetics & Genomic Medicine.2024;[Epub]     CrossRef