Literature DB >> 839498

Two cases of Ellis-van Creveld syndrome in a small island population.

R D Hill.   

Abstract

Two individuals showing features typical of the autosomal recessive Ellis-van Creveld syndrome have been diagnosed in a population of 1340 individuals living on a small island off the west coast of Scotland. Clinical features and family relationships of the affected individuals are described.

Entities:  

Mesh：

Year:  1977        PMID： 839498      PMCID： PMC1013503          DOI： 10.1136/jmg.14.1.33

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  3 in total

1.  DWARFISM IN THE AMISH I. THE ELLIS-VAN CREVELD SYNDROME.

Authors:  V A MCKUSICK; J A EGELAND; R ELDRIDGE; D E KRUSEN
Journal:  Bull Johns Hopkins Hosp       Date:  1964-10

2.  Congenital heart disease in an adult with the Ellis-van Creveld syndrome.

Authors:  F E TUBBS; L CREVASSE; J R GREEN
Journal:  Ann Intern Med       Date:  1962-11       Impact factor: 25.391

3.  Population structure of Barra (Outer Hebrides).

Authors:  N E Morton; C Smith; R Hill; A Frackiewicz; P Law; S Yee
Journal:  Ann Hum Genet       Date:  1976-01       Impact factor: 1.670
  3 in total
  3 in total

1.  Sequencing EVC and EVC2 identifies mutations in two-thirds of Ellis-van Creveld syndrome patients.

Authors:  Stuart W J Tompson; Victor L Ruiz-Perez; Helen J Blair; Stephanie Barton; Victoria Navarro; Joanne L Robson; Michael J Wright; Judith A Goodship
Journal:  Hum Genet       Date:  2006-09-21       Impact factor: 4.132

2.  Orthopaedic manifestations of chondroectodermal dysplasia: the Ellis-van Creveld syndrome.

Authors:  Dennis S Weiner; David Jonah; Bonnie Leighley; Martin S Dicintio; D Holmes Morton; Steven Kopits
Journal:  J Child Orthop       Date:  2013-11-08       Impact factor: 1.548

Review 3.  Molecular and Cellular Pathogenesis of Ellis-van Creveld Syndrome: Lessons from Targeted and Natural Mutations in Animal Models.

Authors:  Ke'ale W Louie; Yuji Mishina; Honghao Zhang
Journal:  J Dev Biol       Date:  2020-10-09
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.