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Roberts syndrome

Roberts syndrome Roberts syndrome is a cohesinopathy, also called SC phocomelia syndrome, caused by bi-allelic mutations in the ESCO2 gene.

Roberts syndrome is a cohesinopathy, also called SC phocomelia syndrome, caused by bi-allelic mutations in the ESCO2 gene. It is associated with a range of developmental problems that can include growth retardation, intellectual disability, microcephaly, and congenital abnormalities.

Sources

Drafting source: Faramarz Atiq; Balk Jesper A.; van Schie Janne J. M.; Oostra Anneke B.; Ghandour Cherien A.; Rooimans Martin A.; Wolthuis Rob M. F.; de Lange Job. Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2. 2020; DOI 10.1371/journal.pone.0220348; article XML SHA-256 2e0bb3a451ca4e0938cbc9768aa90d5cf5d65cf73e51272ebd82de8dedaf0a02. “Non-redundant roles in sister chromatid cohesion of the DNA helicase DDX11 and the SMC3 acetyl transferases ESCO1 and ESCO2” (10.1371/journal.pone.0220348).
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PsychTerms (psychterms.org), CC BY 4.0, version 1. “Roberts syndrome.” Development preview.

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Roberts syndrome

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Sources

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