Literature DB >> 17022072

Oculo-oto-facial dysplasia (OOFD) versus Burn-McKeown syndrome.

Dagmar Wieczorek, Gabriele Gillessen-Kaesbach.   

Abstract

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Year:  2006        PMID: 17022072     DOI: 10.1002/ajmg.a.31478

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  1 in total

1.  Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.

Authors:  Dagmar Wieczorek; William G Newman; Thomas Wieland; Tea Berulava; Maria Kaffe; Daniela Falkenstein; Christian Beetz; Elisabeth Graf; Thomas Schwarzmayr; Sofia Douzgou; Jill Clayton-Smith; Sarah B Daly; Simon G Williams; Sanjeev S Bhaskar; Jill E Urquhart; Beverley Anderson; James O'Sullivan; Odile Boute; Jasmin Gundlach; Johanna Christina Czeschik; Anthonie J van Essen; Filiz Hazan; Sarah Park; Anne Hing; Alma Kuechler; Dietmar R Lohmann; Kerstin U Ludwig; Elisabeth Mangold; Laura Steenpaß; Michael Zeschnigk; Johannes R Lemke; Charles Marques Lourenco; Ute Hehr; Eva-Christina Prott; Melanie Waldenberger; Anne C Böhmer; Bernhard Horsthemke; Raymond T O'Keefe; Thomas Meitinger; John Burn; Hermann-Josef Lüdecke; Tim M Strom
Journal:  Am J Hum Genet       Date:  2014-11-26       Impact factor: 11.025

  1 in total

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