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Article

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

BMC medical genetics - 25 Feb 2010

Ali Bassam R, Akawi Nadia A, Chedid Faris, Bakir Mahmood, Ur Rehman Moghis, Rahmani Aiman, Al-Gazali Lihadh

Abstract excerpt

BACKGROUND: Ellis-van Creveld (EvC) syndrome is an autosomal recessive chondrodysplastic condition with clinical manifestations that include short-limbs and ribs, postaxial polydactyly and dysplastic nails and teeth. In about two thirds of patients, mutations in either EVC or EVC2 genes have been found to be the underlying cause. METHODS: In this paper, we describe the molecular (DNA sequencing) and clinical...

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Identifiers

PMID: 20184732
DOI: 10.1186/1471-2350-11-33
PMCID: PMC2845574

Genes

EVC2
EVC

Variants

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.PMID 20184732Read ↗

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 ↗

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

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

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

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

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

Ellis-van Creveld syndrome due to a novel EVC2 variant in a patient from TurkeySemantic proximity Read ↗

Prenatal whole exome sequencing identified two rare compound heterozygous variants in EVC2 causing 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 ↗

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

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