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Ribosomal Protein L5 and L11 Mutations Are Associated with Cleft Palate and Abnormal Thumbs in Diamond-Blackfan Anemia Patients

Hanna T. Gazda, Mee Rie Sheen, Adrianna Vlachos, Valérie Choesmel, Marie-Françoise O’Donohue, Hal E. Schneider, Natasha Darras, Catherine Hasman, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michał Matysiak, Jan Maciej Zaucha, Bertil Glader, Charlotte M. Niemeyer, Joerg J Meerpohl, Eva Atsidaftos, Jeffrey M. Lipton, Pierre‐Emmanuel Gleizes

Year
2008
Citations
417
Access
Open access

Keywords

Diamond–Blackfan anemiaMacrocytic anemiaBiologyBone marrow failureShort statureRibosomal proteinPure red cell aplasiaClinical significanceAnemiaCongenital disorder

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