Novel PMS2 Pseudogenes Can Conceal Recessive Mutations Causing a Distinctive Childhood Cancer Syndrome
Article, Other literature type
De Vos, Michel
Hayward, Bruce E.
Bonthron, David T.
- Publisher: The American Society of Human Genetics
The American Journal of Human Genetics,
Genetics(clinical) | Genetics | Articles
mesheuropmc: congenital, hereditary, and neonatal diseases and abnormalities | digestive system diseases
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...