Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion in the acetyltransferase domain, correlates with ESCO2 expression and establishes the clinical criteria for Roberts syndrome

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  2. Dr Alison Trainer
  3. Moira Crosier
Author(s)Vega H, Trainer AH, Gordillo M, Crosier M, Kayserili H, Skovby F, Uzielli MLG, Schnur RE, Manouvrier S, Blair E, Hurst JA, Forzano F, Meins M, Simola KOJ, Raas-Rothschild A, Hennekam RCM, Jabs EW
Publication type Article
JournalJournal of Medical Genetics
Year2010
Volume47
Issue1
Pages30-37
ISSN (print)0022-2593
ISSN (electronic)1468-6244
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PublisherBMJ Publishing Group
URLhttp://dx.doi.org/10.1136/jmg.2009.068395
DOI10.1136/jmg.2009.068395
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