Literature DB >> 8014970

Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.

W Reardon1, L van Herwerden, C Rose, B Jones, S Malcolm, R M Winter.   

Abstract

Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci.

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Year:  1994        PMID： 8014970      PMCID： PMC1049746          DOI： 10.1136/jmg.31.3.219

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


  9 in total

1.  Craniofacial dysostosis of Crouzon; a case report and pedigree with emphasis on heredity.

Authors:  J G SHILLER
Journal:  Pediatrics       Date:  1959-01       Impact factor: 7.124

2.  Chromosome 7p--syndrome: craniosynostosis with preservation of region 7p2.

Authors:  D J Aughton; S B Cassidy; D A Whiteman; J A Delach; A E Guttmacher
Journal:  Am J Med Genet       Date:  1991-09-15

3.  Variable expressivity of Crouzon's syndrome within a family.

Authors:  S Kreiborg; B L Jensen
Journal:  Scand J Dent Res       Date:  1977-03

4.  A rapid method for the purification of DNA from blood.

Authors:  M Jeanpierre
Journal:  Nucleic Acids Res       Date:  1987-11-25       Impact factor: 16.971

5.  Cytogenetic evidence that the Saethre-Chotzen gene maps to 7p21.2.

Authors:  W Reardon; S P McManus; D Summers; R M Winter
Journal:  Am J Med Genet       Date:  1993-10-01

6.  Crouzon Syndrome. A clinical and roentgencephalometric study.

Authors:  S Kreiborg
Journal:  Scand J Plast Reconstr Surg Suppl       Date:  1981

7.  Assignment of a gene locus involved in craniosynostosis to chromosome 5qter.

Authors:  U Müller; M L Warman; J B Mulliken; J L Weber
Journal:  Hum Mol Genet       Date:  1993-02       Impact factor: 6.150

8.  Newly recognized autosomal dominant disorder with craniosynostosis.

Authors:  M L Warman; J B Mulliken; P G Hayward; U Müller
Journal:  Am J Med Genet       Date:  1993-06-01

9.  Multilocus linkage analysis in humans: detection of linkage and estimation of recombination.

Authors:  G M Lathrop; J M Lalouel; C Julier; J Ott
Journal:  Am J Hum Genet       Date:  1985-05       Impact factor: 11.025
  9 in total
  2 in total

Review 1.  Saethre-Chotzen syndrome.

Authors:  W Reardon; R M Winter
Journal:  J Med Genet       Date:  1994-05       Impact factor: 6.318

2.  Clinical assessment and FGFR2 mutation analysis in a Chinese family with Crouzon syndrome: A case report.

Authors:  Huijun Shi; Jie Yang; Qingmin Guo; Minglian Zhang
Journal:  Medicine (Baltimore)       Date:  2021-03-12       Impact factor: 1.817
  2 in total

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