Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

doi:10.1016/j.ajhg.2008.11.004

Article

Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

American journal of human genetics - 1 Dec 2008

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

Abstract excerpt

Diamond-Blackfan anemia (DBA), a congenital bone-marrow-failure syndrome, is characterized by red blood cell aplasia, macrocytic anemia, clinical heterogeneity, and increased risk of malignancy. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital anomalies that are present in approximately 30%-50% of patients. The disease has been associated...

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Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.

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