Clinical spectrum and pleiotropic nature of CDH1 germline mutations.
Journal Of Medical Genetics
Figueiredo, Joana J; Melo, Soraia S; Carneiro, Patrícia 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: 768T>A; Asn256Lys
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: 768T>A; Asn256Lys
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
European Journal Of Human Genetics : Ejhg
Kievit, Anneke A; Tessadori, Federico F; Douben, Hannie H; Jordens, Ingrid I; Maurice, Madelon M; Hoogeboom, Jeannette J; Hennekam, Raoul R; Nampoothiri, Sheela S; Kayserili, Hülya H; Castori, Marco M; Whiteford, Margo M; Motter, Connie C; Melver, Catherine C; Cunningham, Michael M; Hing, Anne A; Kokitsu-Nakata, Nancy M NM; Vendramini-Pittoli, Siulan S; Richieri-Costa, Antonio A; Baas, Annette F AF; Breugem, Corstiaan C CC; Duran, Karen K; Massink, Maarten M; Derksen, Patrick W B PWB; van IJcken, Wilfred F J WFJ; van Unen, Leontine L; Santos-Simarro, Fernando F; Lapunzina, Pablo P; Gil-da Silva Lopes, Vera L VL; Lustosa-Mendes, Elaine E; Krall, Max M; Slavotinek, Anne A; Martinez-Glez, Victor V; Bakkers, Jeroen J; van Gassen, Koen L I KLI; de Klein, Annelies A; van den Boogaard, Marie-José H MH; van Haaften, Gijs G
Publication Date: 2018-02
Variant appearance in text: CDH1: 768T>A; Asn256Lys