Article
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
European journal of human genetics : EJHG - 1 Feb 2018
Kievit Anneke, Tessadori Federico, Douben Hannie, Jordens Ingrid, Maurice Madelon, Hoogeboom Jeannette, Hennekam Raoul, Nampoothiri Sheela, Kayserili Hülya, Castori Marco, Whiteford Margo, Motter Connie, Melver Catherine, Cunningham Michael, Hing Anne, Kokitsu-Nakata Nancy M, Vendramini-Pittoli Siulan, Richieri-Costa Antonio, Baas Annette F, Breugem Corstiaan C, Duran Karen, Massink Maarten, Derksen Patrick W B, van IJcken Wilfred F J, van Unen Leontine, Santos-Simarro Fernando, Lapunzina Pablo, Gil-da Silva Lopes Vera L, Lustosa-Mendes Elaine, Krall Max, Slavotinek Anne, Martinez-Glez Victor, Bakkers Jeroen, van Gassen Koen L I, de Klein Annelies, van den Boogaard Marie-José H, van Haaften Gijs
Abstract excerpt
Blepharocheilodontic syndrome (BCDS) consists of lagophthalmia, ectropion of the lower eyelids, distichiasis, euryblepharon, cleft lip/palate and dental anomalies and has autosomal dominant inheritance with variable expression. We identified heterozygous variants in two genes of the cadherin-catenin complex, CDH1, encoding E-cadherin, and CTNND1, encoding p120 catenin delta1 in 15 of 17 BCDS index patients, as...
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