Phenotypic variability in 49 cases of ESCO2 mutations, including novel missense and codon deletion i...
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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England: BMJ Publishing Group Ltd
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English
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England: BMJ Publishing Group Ltd
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BackgroundRoberts 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 be...
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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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TN_cdi_proquest_journals_1781195479
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_1781195479
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ISSN
0022-2593
E-ISSN
1468-6244
DOI
10.1136/jmg.2009.068395
