RPL26 variants: A rare cause of Diamond-Blackfan anemia syndrome with multiple congenital anomalies at the forefront
Autor: | Vanlerberghe, Clémence, Frénois, Frédéric, Smol, Thomas, Jourdain, Anne-Sophie, Escande, Fabienne, Aït-Yahya, Emilie, Aldeeri, Abdulrahman A., Yu, Timothy W., Cormier-Daire, Valérie, Ghoumid, Jamal, Jacob, Maureen, Newbury-Ecob, Ruth, Manouvrier, Sylvie, Platon, Jessica, Sailer, Sebastian, Brunelle, Perrine, Da Costa, Lydie, Petit, Florence |
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Zdroj: | In Genetics in Medicine December 2024 26(12) |
Databáze: | ScienceDirect |
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