Associated Papers
Diamond-Blackfan anemia with very late and fatal onset aplasia in a 55-year-old patient with RPL11 mutation.
Strasser B et al.
Annals of Hematology, 2024
Variable expressivity and incomplete penetrance in a large family with non-classical Diamond-Blackfan anemia associated with ribosomal protein L11 splicing variant.
Carlston CM et al.
American Journal of Medical Genetics. Part A, 2017
Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients.
Gazda HT et al.
American Journal of Human Genetics, 2008
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