Literature DB >> 8533851

Nosology of omodysplasia.

Z Borochowitz, M Barak, S Hershkowitz.   

Abstract

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Year:  1995        PMID： 8533851     DOI： 10.1002/ajmg.1320580416

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  4 in total

1.  Radiologic findings of Patterson-Lowry rhizomelic dysplasia in two sisters.

Authors:  Çağrı Damar; Öznur Boyunağa; Betül Emine Derinkuyu; Nergiz Battaloğlu; Fatih Süheyl Ezgü
Journal:  Skeletal Radiol       Date:  2014-07-20       Impact factor: 2.199

Review 2.  Recessive omodysplasia: five new cases and review of the literature.

Authors:  Nursel H Elçioglu; Karl H Gustavson; Andrew O M Wilkie; Memune Yüksel-Apak; Jürgen W Spranger
Journal:  Pediatr Radiol       Date:  2003-10-18

3.  Mutations in the heparan-sulfate proteoglycan glypican 6 (GPC6) impair endochondral ossification and cause recessive omodysplasia.

Authors:  Ana Belinda Campos-Xavier; Danielle Martinet; John Bateman; Dan Belluoccio; Lynn Rowley; Tiong Yang Tan; Alica Baxová; Karl-Henrik Gustavson; Zvi U Borochowitz; A Micheil Innes; Sheila Unger; Jacques S Beckmann; Lauréane Mittaz; Diana Ballhausen; Andrea Superti-Furga; Ravi Savarirayan; Luisa Bonafé
Journal:  Am J Hum Genet       Date:  2009-05-28       Impact factor: 11.025

4.  Novel Clinical and Radiological Findings in a Family with Autosomal Recessive Omodysplasia.

Authors:  Allan Bayat; Morton Dunø; Maria Kirchhoff; Finn S Jørgensen; Gen Nishimura; Hanne B Hove
Journal:  Mol Syndromol       Date:  2020-03-07
  4 in total

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