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Article

Ellis-van Creveld syndrome: Report of a case and recurrent variant.

The journal of gene medicine - 1 Jun 2020

Eftekhariyazdi Mitra, Meshkani Mahshid, Moslem Alireza, Hakimi Pooria, Safari Shamsi, Khaligh Ali, Zare-Abdollahi Davood

Abstract excerpt

BACKGROUND: Ellis-van Creveld syndrome (EvCS) is a rare autosomal recessive skeletal dysplasia that is characterized by short stature, short limbs, short ribs, polydactyly and structural heart defect. Despite locus heterogeneity, in the majority of the cases, the disorder segregates with mutations in the EVC and EVC2 genes, notably mutations with truncating protein as a final sequence. In the present study, we...

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PMID: 32072716
DOI: 10.1002/jgm.3175

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Related research

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Ellis-van Creveld syndrome: Report of a case and recurrent variant.PMID 32072716Read ↗

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 ↗

Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.Semantic proximity Read ↗

Ellis-van Creveld syndrome.Semantic proximity Read ↗

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

Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.Semantic proximity Read ↗

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.Semantic proximity Read ↗

Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.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 ↗

Phenotypic Variation in Patients with Homozygous c.1678G>T Mutation in EVC Gene: Report of Two Mexican Families with Ellis-van Creveld Syndrome.Semantic proximity Read ↗

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals.Semantic proximity Read ↗

Ellis-van Creveld syndrome in a neonate: a case report.Semantic proximity Read ↗

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