Condition: Ellis-Van Creveld Syndrome
rs1262933856 in
CRMP1;EVC gene and
Ellis-Van Creveld Syndrome
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
PMID 18947413 2008 Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
rs1017946059 in
EVC gene and
Ellis-Van Creveld Syndrome
PMID 19744229 2010 A novel missense mutation in the EVC gene underlies Ellis-van Creveld syndrome in a Pakistani family.
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
rs1159758018 in
EVC2 gene and
Ellis-Van Creveld Syndrome
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
PMID 22190900 2011 Two Adult Patients with Ellis-van Creveld Syndrome Extending the Clinical Spectrum.
PMID 21199751 2010 Ellis-van Creveld syndrome: prenatal diagnosis, molecular analysis and genetic counseling.
PMID 12571802 2003 Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.
PMID 12468274 2002 A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
PMID 19876929 2009 Ellis-van Creveld syndrome and Weyers acrodental dysostosis are caused by cilia-mediated diminished response to hedgehog ligands.
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
PMID 26818569 2016 We identified a novel pattern of germinal compound heterozygous nonsense EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > T (p. R885X), leading to the diagnosis of EVC syndrome.
PMID 21815252 2011 Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.
PMID 26748586 2016 Truncation and microdeletion of EVC/EVC2 with missense mutation of EFCAB7 in Ellis-van Creveld syndrome.
PMID 19251731 2009 Analysis of Ellis van Creveld syndrome gene products: implications for cardiovascular development and disease.
PMID 22406498 2012 Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.
PMID 26580685 2016 Novel homozygous mutations in the EVC and EVC2 genes in two consanguineous families segregating autosomal recessive Ellis-van Creveld syndrome.
PMID 23026208 2012 Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC.
PMID 27280866 2016 De novo mutations in autosomal recessive congenital malformations.
rs121908425 in
EVC;CRMP1 gene and
Ellis-Van Creveld Syndrome
PMID 10700184 2000 Mutations in a new gene in Ellis-van Creveld syndrome and Weyers acrodental dysostosis.
PMID 29068549 2018 Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies.
PMID 17024374 2007 Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.
PMID 23220543 2013 Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis.
PMID 29321360 2017 Ellis-van Creveld syndrome and profound deafness resulted by sequence variants in the EVC/EVC2 and TMC1 genes.
PMID 20184732 2010 Molecular and clinical analysis of Ellis-van Creveld syndrome in the United Arab Emirates.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.
rs1553857801 in
EVC;EVC2 gene and
Ellis-Van Creveld Syndrome
PMID 28854412 2017 Wide-spread cone-shaped epiphyses in two Saudi siblings with Ellis-van Creveld syndrome.
PMID 19810119 2009 Widening the mutation spectrum of EVC and EVC2: ectopic expression of Weyer variants in NIH 3T3 fibroblasts disrupts Hedgehog signaling.