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

T, Frebourg; C, Oliveira; P, Hochain; R, Karam; S, Manouvrier; C, Graziadio; M, Vekemans; A, Hartmann; S, Baert-Desurmont; C, Alexandre; Dumoulin S, Lejeune; C, Marroni; C, Martin; S, Castedo; M, Lovett; J, Winston; JC, Machado; T, Attié; EW, Jabs; J, Cai; P, Pellerin; JP, Triboulet; M, Scotte; Pessot F, Le; A, Hedouin; F, Carneiro; M, Blayau; R, Seruca

doi:10.1136/jmg.2005.031385

Public

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

Shared by NobleBlocks on Apr 14, 2005 • 12:00 AM UTC

Authors:

Frebourg T

Oliveira C

Hochain P

Abstract

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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