A Novel Missense Variant in the PVRL4 Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
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SUBMITTER: Dardour L
PROVIDER: S-EPMC5803726 | biostudies-literature | 2017 Dec
REPOSITORIES: biostudies-literature
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A Novel Missense Variant in the <i>PVRL4</i> Gene Underlying Ectodermal Dysplasia-Syndactyly Syndrome in a Turkish Child.
Dardour Leila L Cosyns Katrien K Devriendt Koenraad K
Molecular syndromology 20170812 1
Ectodermal dysplasia-syndactyly syndrome is a rare autosomal recessive congenital disorder caused by mutations in <i>PVRL4</i> coding for nectin-4. Five different mutations in the <i>PVRL4</i> 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. ...[more]
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