Biallelic variants in DAP3, encoding the mitochondrial ribosomal protein MRPS29, cause a Perrault syndrome spectrum phenotype
Thomas Smith,Leigh Demain,Robert Kopajtich, Alessandro Rea,Manuel Schiff, Christian Beetz,Huw Thomas, Shelagh Joss, Gerard Conway,Kyle Thompson,Monika Olahova, Ruth Glasgow,Emma Jenkinson,Amir Jahic,Inna Belyantseva,Melanie Barzik,Jill Urquhart, James O'Sullivan,Wyatt Yue,Jamie Ellingford,Henry Houlden, Kevin Munro, Thomas Friedman,Robert Taylor,Holger Prokisch, Raymond O'Keefe,William Newman EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
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