Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome

Article, Other literature type English OPEN
De Vos, Michel; Hayward, Bruce E.; Picton, Susan; Sheridan, Eamonn; Bonthron, David T.;
  • Publisher: The American Society of Human Genetics
  • Journal: The American Journal of Human Genetics,volume 74,issue 5,pages954-964 (issn: 0002-9297)
  • Related identifiers: doi: 10.1086/420796, pmc: PMC1181988
  • Subject: Genetics(clinical) | Genetics | Articles
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We investigated a family with an autosomal recessive syndrome of café-au-lait patches and childhood malignancy, notably supratentorial primitive neuroectodermal tumor. There was no cancer predisposition in heterozygotes; nor was there bowel cancer in any individual. How... View more
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