Total: 1 |
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PMID (PMCID) | ||
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21741369 |
FEMALE | Infant |
A Tunisian patient with Pearson syndrome harboring the 4.977kb common deletion associated to two novel large-scale mitochondrial deletions. | ||
Ayed IB, Chamkha I, Mkaouar-Rebai E, Kammoun T, Mezghani N, Chabchoub I, Aloulou H, Hachicha M, Fakhfakh F. Biochem Biophys Res Commun. 2011;411(2):381-6. |
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Pearson syndrome (PS) is a multisystem disease including refractory anemia, vacuolization of marrow precursors and pancreatic fibrosis. |