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Prenatal manifestation of pancytopenia in Pearson marrow-pancreas syndrome caused by a mitochondrial DNA deletion

✍ Scribed by Almut Giese; Renate Kirschner-Schwabe; Katharina Blumchen; Lena Wronski; Shabnam Shalapour; Javier Prada; Pablo Hernáiz Driever; Martin Brauer; Markus Schuelke; Günter Henze; Karl Seeger

Publisher: John Wiley and Sons
Year: 2007
Tongue: English
Weight: 167 KB
Volume: 143A
Category: Article
ISSN: 1552-4825
DOI: 10.1002/ajmg.a.31493

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## Abstract Pearson marrow‐pancreas syndrome is a usually fatal disorder that involves the hematopoietic system, exocrine pancreas, liver, kidneys, and often presents clinically with failure to thrive. We report a 5‐year‐old patient who developed, in addition to the typical features of Pearson synd