Cleft lip/palate and CDH1/E‐cadherin mutations in families with hereditary diffuse gastric cancer

We report the association of CDH1/E‐cadherin mutations with cleft lip, with or without cleft palate (CLP), in two families with hereditary diffuse gastric cancer (HDGC). In each family, the CDH1 mutation was a splicing mutation generating aberrant transcripts with an in‐frame deletion, removing the...

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Hlavní autoři: Frebourg, T, Oliveira, C, Hochain, P, Karam, R, Manouvrier, S, Graziadio, C, Vekemans, M, Hartmann, A, Baert‐Desurmont, S, Alexandre, C, Dumoulin, S Lejeune, Marroni, C, Martin, C, Castedo, S, Lovett, M, Winston, J, Machado, J C, Attié, T, Jabs, E W, Cai, J, Pellerin, Ph, Triboulet, J P, Scotte, M, Pessot, F Le, Hedouin, A, Carneiro, F, Blayau, M, Seruca, R
Médium: Artigo
Jazyk:Inglês
Vydáno: BMJ Group 2006
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2564630/
https://ncbi.nlm.nih.gov/pubmed/15831593
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2005.031385
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