Article
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.
Blood - 17 Jul 2014
Gagne Katelyn E, Ghazvinian Roxanne, Yuan Daniel, Zon Rebecca L, Storm Kelsie, Mazur-Popinska Magdalena, Andolina Laura, Bubala Halina, Golebiowska Sydonia, Higman Meghan A, Kalwak Krzysztof, Kurre Peter, Matysiak Michal, Niewiadomska Edyta, Pels Salley, Petruzzi Mary Jane, Pobudejska-Pieniazek Aneta, Szczepanski Tomasz, Fleming Mark D, Gazda Hanna T, Agarwal Suneet
Abstract excerpt
Pearson marrow pancreas syndrome (PS) is a multisystem disorder caused by mitochondrial DNA (mtDNA) deletions. Diamond-Blackfan anemia (DBA) is a congenital hypoproliferative anemia in which mutations in ribosomal protein genes and GATA1 have been implicated. Both syndromes share several features including early onset of severe anemia, variable nonhematologic manifestations, sporadic genetic occurrence, and...
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