Associated Papers
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
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
Select a paper to view details