Article
Identification of germline mutations in the cancer predisposing gene CDH1 in patients with orofacial clefts.
Human molecular genetics - 1 Mar 2013
Vogelaar Ingrid P, Figueiredo Joana, van Rooij Iris A L M, Simões-Correia Joana, van der Post Rachel S, Melo Soraia, Seruca Raquel, Carels Carine E L, Ligtenberg Marjolijn J L, Hoogerbrugge Nicoline
Abstract excerpt
Orofacial clefts (OFC) are among the most common birth defects worldwide. The etiology of non-syndromic OFC is still largely unknown. During embryonic development, the cell adhesion molecule E-cadherin, encoded by CDH1, is highly expressed in the median edge epithelium of the palate. Furthermore, in multiple families with CDH1 mutations, OFC cases are observed. To determine whether CDH1 is a causative gene for...
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