Total: 1 |
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PMID (PMCID) | ||
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16835920 |
MALE | |
Paternal isodisomy of chromosome 7 with cystic fibrosis and overgrowth. | ||
Fares F, David M, Lerner A, Diukman R, Lerer I, Abeliovich D, Rivlin J. Am J Med Genet A. 2006;140(16):1785-8. |
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We have diagnosed a boy with cystic fibrosis (CF) due to paternal UPD presenting with overweight and developmental delay, not typical features to CF patients. |