Variants in members of the cadherin–catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome
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DOI: 10.1038/s41431-017-0010-5
Abstract: 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… read more here.
Keywords: cdh1; blepharocheilodontic syndrome; ctnnd1; catenin ... See more keywords