Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Journal Of Medical Genetics
Figueiredo, Joana J; Melo, Soraia S; Carneiro, PatrĂcia P; Moreira, Ana Margarida AM; Fernandes, Maria Sofia MS; Ribeiro, Ana Sofia AS; Guilford, Parry P; Paredes, Joana J; Seruca, Raquel R
Publication Date: 2019-04
Variant appearance in text: CDH1: 2426_2427del; Asn809Ilefs*3
Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate.
American Journal Of Human Genetics
Cox, Liza L LL; Cox, Timothy C TC; Moreno Uribe, Lina M LM; Zhu, Ying Y; Richter, Chika T CT; Nidey, Nichole N; Standley, Jennifer M JM; Deng, Mei M; Blue, Elizabeth E; Chong, Jessica X JX; Yang, Yueqin Y; Carstens, Russ P RP; Anand, Deepti D; Lachke, Salil A SA; Smith, Joshua D JD; Dorschner, Michael O MO; Bedell, Bruce B; Kirk, Edwin E; Hing, Anne V AV; Venselaar, Hanka H; Valencia-Ramirez, Luz C LC; Bamshad, Michael J MJ; Glass, Ian A IA; Cooper, Jonathan A JA; Haan, Eric E; Nickerson, Deborah A DA; van Bokhoven, Hans H; Zhou, Huiqing H; Krahn, Katy N KN; Buckley, Michael F MF; Murray, Jeffrey C JC; Lidral, Andrew C AC; Roscioli, Tony T
Publication Date: 2018-06-07
Variant appearance in text: CDH1: 2426_2427del; Asn809Ilefs