Literature DB >> 17640054

Photo essay--geroderma osteodysplastica.

Annemarie Sommer1.   

Abstract

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Year:  2007        PMID: 17640054     DOI: 10.1002/ajmg.c.30146

Source DB:  PubMed          Journal:  Am J Med Genet C Semin Med Genet        ISSN: 1552-4868            Impact factor:   3.908


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  1 in total

1.  Mutations in PYCR1 cause cutis laxa with progeroid features.

Authors:  Bruno Reversade; Nathalie Escande-Beillard; Aikaterini Dimopoulou; Björn Fischer; Serene C Chng; Yun Li; Mohammad Shboul; Puay-Yoke Tham; Hülya Kayserili; Lihadh Al-Gazali; Monzer Shahwan; Francesco Brancati; Hane Lee; Brian D O'Connor; Mareen Schmidt-von Kegler; Barry Merriman; Stanley F Nelson; Amira Masri; Fawaz Alkazaleh; Deanna Guerra; Paola Ferrari; Arti Nanda; Anna Rajab; David Markie; Mary Gray; John Nelson; Arthur Grix; Annemarie Sommer; Ravi Savarirayan; Andreas R Janecke; Elisabeth Steichen; David Sillence; Ingrid Hausser; Birgit Budde; Gudrun Nürnberg; Peter Nürnberg; Petra Seemann; Désirée Kunkel; Giovanna Zambruno; Bruno Dallapiccola; Markus Schuelke; Stephen Robertson; Hanan Hamamy; Bernd Wollnik; Lionel Van Maldergem; Stefan Mundlos; Uwe Kornak
Journal:  Nat Genet       Date:  2009-08-02       Impact factor: 38.330

  1 in total

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