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De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias by Harms, Frederike Leonie (Author) , Dingemans, Alexander J. M. (Author) , Hempel, Maja (Author) , Pfundt, Rolph (Author) , Bierhals, Tatjana (Author) , Casar, Christian (Author) , Müller, Christian (Author) , Niermeijer, Jikke-Mien F. (Author) , Fischer, Jan (Author) , Jahn, Arne (Author) , Hübner, Christoph (Author) , Majore, Silvia (Author) , Agolini, Emanuele (Author) , Novelli, Antonio (Author) , van der Smagt, Jasper (Author) , Ernst, Robert (Author) , van Binsbergen, Ellen (Author) , Mancini, Grazia M. S. (Author) , van Slegtenhorst, Marjon (Author) , Barakat, Tahsin Stefan (Author) , Wakeling, Emma L. (Author) , Kamath, Arveen (Author) , Downie, Lilian (Author) , Pais, Lynn (Author) , White, Susan M. (Author) , de Vries, Bert B. A. (Author) , Kutsche, Kerstin (Author) ,

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De novo variants in the PABP domain of PABPC1 lead to developmental delay by Wegler, Meret (Author) , Jia, Xiangbin (Author) , Alders, Marielle (Author) , Bouman, Arjan (Author) , Chen, Jia (Author) , Duan, Xinyu (Author) , Lauzon, Julie L. (Author) , Mathijssen, Inge B. (Author) , Sticht, Heinrich (Author) , Syrbe, Steffen (Author) , Tan, Senwei (Author) , Guo, Hui (Author) , Abou Jamra, Rami (Author) ,

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