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The Capital Region of Denmark - a part of Copenhagen University Hospital
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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

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  • H Vega
  • A H Trainer
  • M Gordillo
  • M Crosier
  • H Kayserili
  • F Skovby
  • M L Giovannucci Uzielli
  • R E Schnur
  • S Manouvrier
  • E Blair
  • J A Hurst
  • F Forzano
  • M Meins
  • Mari Kristina Simola
  • A Raas-Rothschild
  • R C M Hennekam
  • E Wang Jabs
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Roberts syndrome (RBS) and SC phocomelia are caused by mutations in ESCO2, which codes for an acetyltransferase involved in the regulation of sister chromatid cohesion. Of 26 mutations described to date, only one missense mutation has been reported and all others are predicted to be truncating mutations. Genotype-phenotype analysis has been hampered by limited numbers of patients with clinical information available.
Original languageEnglish
JournalJournal of Medical Genetics
Volume47
Issue number1
Pages (from-to)30-7
Number of pages8
ISSN0022-2593
DOIs
Publication statusPublished - 1 Jan 2010

ID: 32199180