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Literature DB >> 12571802

Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome.

Victor L Ruiz-Perez¹, Stuart W J Tompson, Helen J Blair, Cecilia Espinoza-Valdez, Pablo Lapunzina, Elias O Silva, Ben Hamel, John L Gibbs, Ian D Young, Michael J Wright, Judith A Goodship.

Abstract

Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.

Entities: Disease Gene Mutation Species

Mesh：

Substances：

Year: 2003 PMID： 12571802 PMCID： PMC1180248 DOI： 10.1086/368063

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

16 in total

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Journal: Science Date: 2000-12-01 Impact factor: 47.728

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Authors: Noritaka Adachi; Michael R Lieber
Journal: Cell Date: 2002-06-28 Impact factor: 41.582

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10. The sequence of the human genome.

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Journal: Science Date: 2001-02-16 Impact factor: 47.728

71 in total

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2. Loss of Function of Evc2 in Dental Mesenchyme Leads to Hypomorphic Enamel.

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3. Common variations in 4p locus are related to male completed suicide.

Authors: Anne Must; Sulev Kõks; Eero Vasar; Gunnar Tasa; Aavo Lang; Eduard Maron; Marika Väli
Journal: Neuromolecular Med Date: 2008-12-25 Impact factor: 3.843

Review 4. Genetic Basis for Congenital Heart Disease: Revisited: A Scientific Statement From the American Heart Association.

Authors: Mary Ella Pierpont; Martina Brueckner; Wendy K Chung; Vidu Garg; Ronald V Lacro; Amy L McGuire; Seema Mital; James R Priest; William T Pu; Amy Roberts; Stephanie M Ware; Bruce D Gelb; Mark W Russell
Journal: Circulation Date: 2018-11-20 Impact factor: 29.690