Autor: |
Olivier Goulet, Claude Houdayer, Marie Christine De Blois, Jean Pierre Fryns, Dominique Stoppa-Lyonnet, Damien Sanlaville, Stanislas Lyonnet, Charis Eng, Michel Vekemans, Capucine Delnatte, J. F. Mougenot, Joris Vermeesch, Serge Romana, David Geneviève, Francis Jaubert |
Rok vydání: |
2006 |
Předmět: |
|
Zdroj: |
The American Journal of Human Genetics. 78:1066-1074 |
ISSN: |
0002-9297 |
Popis: |
We describe four unrelated children who were referred to two tertiary referral medical genetics units between 1991 and 2005 and who are affected with juvenile polyposis of infancy. We show that these children are heterozygous for a germline deletion encompassing two contiguous genes, PTEN and BMPR1A. We hypothesize that juvenile polyposis of infancy is caused by the deletion of these two genes and that the severity of the disease reflects cooperation between these two tumor-suppressor genes. |
Databáze: |
OpenAIRE |
Externí odkaz: |
|