Contiguous Gene Deletion within Chromosome Arm 10q Is Associated with Juvenile Polyposis of Infancy, Reflecting Cooperation between the BMPR1A and PTEN Tumor-Suppressor Genes

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...

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Detalhes bibliográficos
Main Authors: Delnatte, Capucine, Sanlaville, Damien, Mougenot, Jean-François, Vermeesch, Joris-Robert, Houdayer, Claude, Blois, Marie-Christine de, Genevieve, David, Goulet, Olivier, Fryns, Jean-Pierre, Jaubert, Francis, Vekemans, Michel, Lyonnet, Stanislas, Romana, Serge, Eng, Charis, Stoppa-Lyonnet, Dominique
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2006
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1474102/
https://ncbi.nlm.nih.gov/pubmed/16685657
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