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Article

Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.

Clinical dysmorphology - 1 Jan 2016

Aziz Abdul, Raza Syed I, Ali Salman, Ahmad Wasim

Abstract excerpt

Ellis-van Creveld syndrome (EVC) is a rare developmental disorder characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, teeth, oral and cardiac abnormalities. It is caused by biallelic mutations in the EVC or EVC2 gene, separated by 2.6 kb of genomic sequence on chromosome 4p16. In the present study, we have investigated two consanguineous families of Pakistani origin, segregating EVC...

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Source

Identifiers

PMID: 26580685
DOI: 10.1097/MCD.0000000000000104

Genes

EVC
EVC2

Variants

Provenance

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Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.PMID 26580685Read ↗

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Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing Ellis-van Creveld syndrome.Semantic proximity Read ↗

A homozygous EVC mutation in a prenatal fetus with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.Semantic proximity Read ↗

[From gene to disease; EVC, EVC2, and Ellis-van Creveld syndrome].Semantic proximity Read ↗

A Turkish family with Ellis-van Creveld syndrome in six siblings; linkage analysis on 4p16 region (D4S3360-D4S2366).Semantic proximity Read ↗

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Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome.Semantic proximity Read ↗

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