Literature DB >> 7628126

Symptomatic heterozygosity in the Ellis-van Creveld syndrome?

S Spranger1, G Tariverdian.   

Abstract

A 13-month-old girl with Ellis-van Creveld syndrome and her mildly affected father are described. We discuss whether the father is a symptomatic heterozygote of the Ellis-van Creveld syndrome or an untypical affected patient with Weyers' acrodental dysostosis.

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Mesh：

Year:  1995        PMID： 7628126     DOI： 10.1111/j.1399-0004.1995.tb03963.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  6 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.  A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis.

Authors:  Xiaoqian Ye; Guangtai Song; Mingwen Fan; Lisong Shi; Ethylin Wang Jabs; Shangzhi Huang; Ruiqiang Guo; Zhuan Bian
Journal:  Hum Genet       Date:  2006-01-11       Impact factor: 4.132

3.  Autosomal dominant postaxial polydactyly, nail dystrophy, and dental abnormalities map to chromosome 4p16, in the region containing the Ellis-van Creveld syndrome locus.

Authors:  T D Howard; A E Guttmacher; W McKinnon; M Sharma; V A McKusick; E W Jabs
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

4.  Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.

Authors:  Roxann G Ingersoll; Jacqueline Hetmanski; Ji-Wan Park; M Daniele Fallin; Iain McIntosh; Yah-Huei Wu-Chou; Philip K Chen; Vincent Yeow; Samuel S Chong; Felicia Cheah; Jae Woong Sull; Sun Ha Jee; Hong Wang; Tao Wu; Tanda Murray; Shangzhi Huang; Xiaoqian Ye; Ethylin Wang Jabs; Richard Redett; Gerald Raymond; Alan F Scott; Terri H Beaty
Journal:  Eur J Hum Genet       Date:  2010-01-20       Impact factor: 4.246

5.  Extending the spectrum of Ellis van Creveld syndrome: a large family with a mild mutation in the EVC gene.

Authors:  Hakan Ulucan; Davut Gül; Julie C Sapp; John Cockerham; Jennifer J Johnston; Leslie G Biesecker
Journal:  BMC Med Genet       Date:  2008-10-23       Impact factor: 2.103

Review 6.  Ellis-van Creveld syndrome.

Authors:  Geneviève Baujat; Martine Le Merrer
Journal:  Orphanet J Rare Dis       Date:  2007-06-04       Impact factor: 4.123
  6 in total

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