Associated Papers
Congenital limb deficiency: Genetic investigation of 44 individuals presenting mainly longitudinal defects in isolated or syndromic forms.
da Rocha LA et al.
Clinical Genetics, 2021
Report of the Phenotype of a Patient with Roberts Syndrome and a Rare ESCO2 Variant.
da Costa Almeida CB et al.
Journal of Pediatric Genetics, 2020
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
Shahi RB et al.
Bmc Cancer, 2019
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
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