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A Novel Mitochondrial DNA Deletion in Patient with Pearson Syndrome

INTRODUCTION: Arteriovenous Pearson syndrome is a very rare multisystemic mitochondrial disease characterized by sideroblastic anemia and exocrine pancreatic insufficiency. It is usually fatal in infancy. CASE REPORT: We reported a four-month-old infant presented with fever and pancytopenia. Bone ma...

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Detalles Bibliográficos
Autores principales: Khasawneh, Rame, Alsokhni, Hala, Alzghoul, Bayan, Momani, Asim, Abualsheikh, Nazih, Kamal, Nazmi, Qatawneh, Mousa, Abbasi, Nabeeha
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academy of Medical Sciences of Bosnia and Herzegovina 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5911175/
https://www.ncbi.nlm.nih.gov/pubmed/29736106
http://dx.doi.org/10.5455/medarh.2018.72.148-150