A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child

Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations inPVRL4coding for nectin-4. Five different mutations in thePVRL4 gene, including 3 homozygous missense mutations, have been reported. Here, we present an unreported missense variant (c.247C>T, p.His83Tyr) in a consanguineous Turkish family.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research