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Title: Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes
Authors: Delnatte, Capucine ×
Sanlaville, Damien
Mougenot, Jean-Francois
Vermeesch, Joris
Houdayer, Claude
de Blois, Marie-Christine
Genevieve, David
Goulet, Olivier
Fryns, Jean-Pierre
Jaubert, Francis
Vekemans, Michel
Lyonnet, Stanislas
Romana, Serge
Eng, Charis
Stoppa-Lyonnet, Dominique #
Issue Date: Jun-2006
Series Title: American Journal of Human Genetics vol:78 issue:6 pages:1066-1074
Abstract: 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.
ISSN: 0002-9297
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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