A Novel Missense Variant in theGene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
Mol Syndromol 2017 Dec 12;9(1):22-24. Epub 2017 Aug 12.
Center for Human Genetics, University of Leuven (KU) and University Hospital Leuven (UZ), Leuven, Belgium.
Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations incoding for nectin-4. Five different mutations in thegene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c. Read More