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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

Lookup NU author(s): Dr Alison Trainer, Moira Crosier


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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

Journal: Journal of Medical Genetics

Year: 2010

Volume: 47

Issue: 1

Pages: 30-37

ISSN (print): 0022-2593

ISSN (electronic): 1468-6244

Publisher: BMJ Publishing Group


DOI: 10.1136/jmg.2009.068395


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