Associated Papers
Integrated exome and RNA sequencing of TFE3-translocation renal cell carcinoma.
Sun G et al.
Nature Communications, 2021
34489456 (PubMed )
Supplement: 41467_2021_25618_MOESM6_ESM.xlsx › Somatic_mutations
Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations.
Colombo EA et al.
Frontiers in Pediatrics, 2019
Expanding the mutation and clinical spectrum of Roberts syndrome.
Afifi HH et al.
Congenital Anomalies, 2016
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.
Vega H et al.
Journal of Medical Genetics, 2010
The molecular mechanism underlying Roberts syndrome involves loss of ESCO2 acetyltransferase activity.
Gordillo M et al.
Human Molecular Genetics, 2008
Inactivating mutations in ESCO2 cause SC phocomelia and Roberts syndrome: no phenotype-genotype correlation.
Schüle B et al.
American Journal of Human Genetics, 2005
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