Associated Papers
Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.
Scocchia A et al.
Orphanet Journal of Rare Diseases, 2021
34627339 (PubMed )
Supplement: 13023_2021_2025_MOESM2_ESM.xlsx › Prenatal_diagnostic_variants
Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.
Durham BH et al.
Nature Medicine, 2019
31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf
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 Roberts syndrome: a case report of an infant with valvular aortic stenosis and mutation in ESCO2.
Dogan M et al.
Jpma. the Journal of the Pakistan Medical Association, 2014
3D-FISH analysis reveals chromatid cohesion defect during interphase in Roberts syndrome.
Dupont C et al.
Molecular Cytogenetics, 2014
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
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